nsv2788072
- Organism: Homo sapiens
- Study:nstd132 (Walker et al. 2017)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:43,177
- Publication(s):Walker et al. 2017
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2217 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 681 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 555 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 784 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 2217 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 889 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 680 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 875 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 1323 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv2788072 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,637,290 | 32,680,466 |
nsv2788072 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,938,352 | 3,972,325 |
nsv2788072 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,039,221 | 4,065,138 |
nsv2788072 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,881,209 | 3,917,678 |
nsv2788072 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,605,067 | 32,648,243 |
nsv2788072 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,886,794 | 3,923,263 |
nsv2788072 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,943,937 | 3,977,910 |
nsv2788072 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,038,519 | 4,064,436 |
nsv2788072 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,713,045 | 32,756,221 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv13670063 | copy number loss | CGPQ-543 | SNP array | Genotyping | 5 |
nssv13670064 | copy number loss | CGPQ-990 | SNP array | Genotyping | 6 |
nssv13670065 | copy number loss | CGPQ-324 | SNP array | Genotyping | 12 |
nssv13670066 | copy number loss | CGPQ-2235 | SNP array | Genotyping | nssv13674627, nssv13665635, nssv13668094 |
nssv13670067 | copy number loss | CGPQ-700 | SNP array | Genotyping | nssv13670319, nssv13667892 |
nssv13670068 | copy number loss | CGPQ-711 | SNP array | Genotyping | 10 |
nssv13670069 | copy number loss | CGPQ-97 | SNP array | Genotyping | 8 |
nssv13670070 | copy number loss | CGPQ-344 | SNP array | Genotyping | nssv13660792, nssv13662726 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13670063 | Remapped | Pass | NT_167247.2:g.(?_3 938352)_(3972325_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,938,352 | 3,972,325 |
nssv13670064 | Remapped | Pass | NT_167247.2:g.(?_3 938352)_(3972325_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,938,352 | 3,972,325 |
nssv13670065 | Remapped | Pass | NT_167247.2:g.(?_3 938352)_(3972325_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,938,352 | 3,972,325 |
nssv13670066 | Remapped | Pass | NT_167247.2:g.(?_3 938352)_(3972325_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,938,352 | 3,972,325 |
nssv13670067 | Remapped | Pass | NT_167247.2:g.(?_3 938352)_(3972325_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,938,352 | 3,972,325 |
nssv13670068 | Remapped | Pass | NT_167247.2:g.(?_3 938352)_(3972325_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,938,352 | 3,972,325 |
nssv13670069 | Remapped | Pass | NT_167247.2:g.(?_3 938352)_(3972325_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,938,352 | 3,972,325 |
nssv13670070 | Remapped | Pass | NT_167247.2:g.(?_3 938352)_(3972325_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,938,352 | 3,972,325 |
nssv13670063 | Remapped | Pass | NT_167249.2:g.(?_4 039221)_(4065138_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,039,221 | 4,065,138 |
nssv13670064 | Remapped | Pass | NT_167249.2:g.(?_4 039221)_(4065138_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,039,221 | 4,065,138 |
nssv13670065 | Remapped | Pass | NT_167249.2:g.(?_4 039221)_(4065138_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,039,221 | 4,065,138 |
nssv13670066 | Remapped | Pass | NT_167249.2:g.(?_4 039221)_(4065138_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,039,221 | 4,065,138 |
nssv13670067 | Remapped | Pass | NT_167249.2:g.(?_4 039221)_(4065138_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,039,221 | 4,065,138 |
nssv13670068 | Remapped | Pass | NT_167249.2:g.(?_4 039221)_(4065138_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,039,221 | 4,065,138 |
nssv13670069 | Remapped | Pass | NT_167249.2:g.(?_4 039221)_(4065138_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,039,221 | 4,065,138 |
nssv13670070 | Remapped | Pass | NT_167249.2:g.(?_4 039221)_(4065138_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,039,221 | 4,065,138 |
nssv13670063 | Remapped | Pass | NT_167245.2:g.(?_3 881209)_(3917678_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,881,209 | 3,917,678 |
nssv13670064 | Remapped | Pass | NT_167245.2:g.(?_3 881209)_(3917678_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,881,209 | 3,917,678 |
nssv13670065 | Remapped | Pass | NT_167245.2:g.(?_3 881209)_(3917678_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,881,209 | 3,917,678 |
nssv13670066 | Remapped | Pass | NT_167245.2:g.(?_3 881209)_(3917678_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,881,209 | 3,917,678 |
nssv13670067 | Remapped | Pass | NT_167245.2:g.(?_3 881209)_(3917678_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,881,209 | 3,917,678 |
nssv13670068 | Remapped | Pass | NT_167245.2:g.(?_3 881209)_(3917678_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,881,209 | 3,917,678 |
nssv13670069 | Remapped | Pass | NT_167245.2:g.(?_3 881209)_(3917678_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,881,209 | 3,917,678 |
nssv13670070 | Remapped | Pass | NT_167245.2:g.(?_3 881209)_(3917678_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,881,209 | 3,917,678 |
nssv13670063 | Remapped | Perfect | NC_000006.12:g.(?_ 32637290)_(3268046 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,637,290 | 32,680,466 |
nssv13670064 | Remapped | Perfect | NC_000006.12:g.(?_ 32637290)_(3268046 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,637,290 | 32,680,466 |
nssv13670065 | Remapped | Perfect | NC_000006.12:g.(?_ 32637290)_(3268046 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,637,290 | 32,680,466 |
nssv13670066 | Remapped | Perfect | NC_000006.12:g.(?_ 32637290)_(3268046 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,637,290 | 32,680,466 |
nssv13670067 | Remapped | Perfect | NC_000006.12:g.(?_ 32637290)_(3268046 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,637,290 | 32,680,466 |
nssv13670068 | Remapped | Perfect | NC_000006.12:g.(?_ 32637290)_(3268046 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,637,290 | 32,680,466 |
nssv13670069 | Remapped | Perfect | NC_000006.12:g.(?_ 32637290)_(3268046 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,637,290 | 32,680,466 |
nssv13670070 | Remapped | Perfect | NC_000006.12:g.(?_ 32637290)_(3268046 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,637,290 | 32,680,466 |
nssv13670063 | Remapped | Pass | NT_167245.1:g.(?_3 886794)_(3923263_? )delNT_167245.1:g. (?_3886794)_(39232 63_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,886,794 | 3,923,263 |
nssv13670064 | Remapped | Pass | NT_167245.1:g.(?_3 886794)_(3923263_? )delNT_167245.1:g. (?_3886794)_(39232 63_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,886,794 | 3,923,263 |
nssv13670065 | Remapped | Pass | NT_167245.1:g.(?_3 886794)_(3923263_? )delNT_167245.1:g. (?_3886794)_(39232 63_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,886,794 | 3,923,263 |
nssv13670066 | Remapped | Pass | NT_167245.1:g.(?_3 886794)_(3923263_? )delNT_167245.1:g. (?_3886794)_(39232 63_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,886,794 | 3,923,263 |
nssv13670067 | Remapped | Pass | NT_167245.1:g.(?_3 886794)_(3923263_? )delNT_167245.1:g. (?_3886794)_(39232 63_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,886,794 | 3,923,263 |
nssv13670068 | Remapped | Pass | NT_167245.1:g.(?_3 886794)_(3923263_? )delNT_167245.1:g. (?_3886794)_(39232 63_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,886,794 | 3,923,263 |
nssv13670069 | Remapped | Pass | NT_167245.1:g.(?_3 886794)_(3923263_? )delNT_167245.1:g. (?_3886794)_(39232 63_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,886,794 | 3,923,263 |
nssv13670070 | Remapped | Pass | NT_167245.1:g.(?_3 886794)_(3923263_? )delNT_167245.1:g. (?_3886794)_(39232 63_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,886,794 | 3,923,263 |
nssv13670063 | Remapped | Pass | NT_167247.1:g.(?_3 943937)_(3977910_? )delNT_167247.1:g. (?_3943937)_(39779 10_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,943,937 | 3,977,910 |
nssv13670064 | Remapped | Pass | NT_167247.1:g.(?_3 943937)_(3977910_? )delNT_167247.1:g. (?_3943937)_(39779 10_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,943,937 | 3,977,910 |
nssv13670065 | Remapped | Pass | NT_167247.1:g.(?_3 943937)_(3977910_? )delNT_167247.1:g. (?_3943937)_(39779 10_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,943,937 | 3,977,910 |
nssv13670066 | Remapped | Pass | NT_167247.1:g.(?_3 943937)_(3977910_? )delNT_167247.1:g. (?_3943937)_(39779 10_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,943,937 | 3,977,910 |
nssv13670067 | Remapped | Pass | NT_167247.1:g.(?_3 943937)_(3977910_? )delNT_167247.1:g. (?_3943937)_(39779 10_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,943,937 | 3,977,910 |
nssv13670068 | Remapped | Pass | NT_167247.1:g.(?_3 943937)_(3977910_? )delNT_167247.1:g. (?_3943937)_(39779 10_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,943,937 | 3,977,910 |
nssv13670069 | Remapped | Pass | NT_167247.1:g.(?_3 943937)_(3977910_? )delNT_167247.1:g. (?_3943937)_(39779 10_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,943,937 | 3,977,910 |
nssv13670070 | Remapped | Pass | NT_167247.1:g.(?_3 943937)_(3977910_? )delNT_167247.1:g. (?_3943937)_(39779 10_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,943,937 | 3,977,910 |
nssv13670063 | Remapped | Pass | NT_167249.1:g.(?_4 038519)_(4064436_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,038,519 | 4,064,436 |
nssv13670064 | Remapped | Pass | NT_167249.1:g.(?_4 038519)_(4064436_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,038,519 | 4,064,436 |
nssv13670065 | Remapped | Pass | NT_167249.1:g.(?_4 038519)_(4064436_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,038,519 | 4,064,436 |
nssv13670066 | Remapped | Pass | NT_167249.1:g.(?_4 038519)_(4064436_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,038,519 | 4,064,436 |
nssv13670067 | Remapped | Pass | NT_167249.1:g.(?_4 038519)_(4064436_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,038,519 | 4,064,436 |
nssv13670068 | Remapped | Pass | NT_167249.1:g.(?_4 038519)_(4064436_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,038,519 | 4,064,436 |
nssv13670069 | Remapped | Pass | NT_167249.1:g.(?_4 038519)_(4064436_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,038,519 | 4,064,436 |
nssv13670070 | Remapped | Pass | NT_167249.1:g.(?_4 038519)_(4064436_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,038,519 | 4,064,436 |
nssv13670063 | Remapped | Perfect | NC_000006.11:g.(?_ 32605067)_(3264824 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,605,067 | 32,648,243 |
nssv13670064 | Remapped | Perfect | NC_000006.11:g.(?_ 32605067)_(3264824 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,605,067 | 32,648,243 |
nssv13670065 | Remapped | Perfect | NC_000006.11:g.(?_ 32605067)_(3264824 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,605,067 | 32,648,243 |
nssv13670066 | Remapped | Perfect | NC_000006.11:g.(?_ 32605067)_(3264824 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,605,067 | 32,648,243 |
nssv13670067 | Remapped | Perfect | NC_000006.11:g.(?_ 32605067)_(3264824 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,605,067 | 32,648,243 |
nssv13670068 | Remapped | Perfect | NC_000006.11:g.(?_ 32605067)_(3264824 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,605,067 | 32,648,243 |
nssv13670069 | Remapped | Perfect | NC_000006.11:g.(?_ 32605067)_(3264824 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,605,067 | 32,648,243 |
nssv13670070 | Remapped | Perfect | NC_000006.11:g.(?_ 32605067)_(3264824 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,605,067 | 32,648,243 |
nssv13670063 | Submitted genomic | NC_000006.10:g.(?_ 32713045)_(3275622 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,713,045 | 32,756,221 | ||
nssv13670064 | Submitted genomic | NC_000006.10:g.(?_ 32713045)_(3275622 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,713,045 | 32,756,221 | ||
nssv13670065 | Submitted genomic | NC_000006.10:g.(?_ 32713045)_(3275622 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,713,045 | 32,756,221 | ||
nssv13670066 | Submitted genomic | NC_000006.10:g.(?_ 32713045)_(3275622 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,713,045 | 32,756,221 | ||
nssv13670067 | Submitted genomic | NC_000006.10:g.(?_ 32713045)_(3275622 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,713,045 | 32,756,221 | ||
nssv13670068 | Submitted genomic | NC_000006.10:g.(?_ 32713045)_(3275622 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,713,045 | 32,756,221 | ||
nssv13670069 | Submitted genomic | NC_000006.10:g.(?_ 32713045)_(3275622 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,713,045 | 32,756,221 | ||
nssv13670070 | Submitted genomic | NC_000006.10:g.(?_ 32713045)_(3275622 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,713,045 | 32,756,221 |