nsv2786727
- Organism: Homo sapiens
- Study:nstd132 (Walker et al. 2017)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:239,666
- 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: 9576 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 1251 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1137 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1323 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 9577 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 1180 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 1414 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1545 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 5969 SVs from 33 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 |
---|---|---|---|---|---|---|---|---|---|
nsv2786727 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,467,162 | 32,683,279 |
nsv2786727 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,858,983 | 3,975,140 |
nsv2786727 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,833,381 | 4,065,138 |
nsv2786727 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,824,251 | 4,063,916 |
nsv2786727 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,434,939 | 32,651,056 |
nsv2786727 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,864,568 | 3,980,725 |
nsv2786727 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,832,679 | 4,064,436 |
nsv2786727 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 3,827,971 | 4,069,536 |
nsv2786727 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,542,917 | 32,759,034 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv13669998 | copy number loss | CGPQ-924 | SNP array | Genotyping | nssv13662623, nssv13666871, nssv13667889 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13669998 | Remapped | Pass | NT_167246.2:g.(?_3 824251)_(4063916_? )del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,824,251 | 4,063,916 |
nssv13669998 | Remapped | Pass | NT_167249.2:g.(?_3 833381)_(4065138_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,833,381 | 4,065,138 |
nssv13669998 | Remapped | Pass | NT_167247.2:g.(?_3 858983)_(3975140_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,858,983 | 3,975,140 |
nssv13669998 | Remapped | Perfect | NC_000006.12:g.(?_ 32467162)_(3268327 9_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,467,162 | 32,683,279 |
nssv13669998 | Remapped | Pass | NT_167246.1:g.(?_3 827971)_(4069536_? )delNT_167246.1:g. (?_3827971)_(40695 36_?)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 3,827,971 | 4,069,536 |
nssv13669998 | Remapped | Pass | NT_167249.1:g.(?_3 832679)_(4064436_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,832,679 | 4,064,436 |
nssv13669998 | Remapped | Pass | NT_167247.1:g.(?_3 864568)_(3980725_? )delNT_167247.1:g. (?_3864568)_(39807 25_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,864,568 | 3,980,725 |
nssv13669998 | Remapped | Perfect | NC_000006.11:g.(?_ 32434939)_(3265105 6_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,434,939 | 32,651,056 |
nssv13669998 | Submitted genomic | NC_000006.10:g.(?_ 32542917)_(3275903 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,542,917 | 32,759,034 |