nsv4667249
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,481
- Description:nsv4625808 from DECIPHER Consensus CNVs. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 328 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 335 SVs from 47 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4667249 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 28,553,672 | 28,561,152 |
nsv4667249 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 829,463 | 836,943 |
nsv4667249 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 715,677 | 723,157 |
nsv4667249 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315943.1 | Chr15|NW_0 03315943.1 | 253,252 | 260,732 |
nsv4667249 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 28,798,818 | 28,806,298 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16192159 | deletion | Curated | Curated |
nssv16198524 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16192159 | Remapped | Perfect | NT_187660.1:g.(?_8 29463)_(836943_?)d el | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 829,463 | 836,943 |
nssv16198524 | Remapped | Perfect | NT_187660.1:g.(?_8 29463)_(836943_?)d up | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 829,463 | 836,943 |
nssv16192159 | Remapped | Perfect | NW_003315943.1:g.( ?_253252)_(260732_ ?)del | GRCh38.p12 | Second Pass | NW_003315943.1 | Chr15|NW_0 03315943.1 | 253,252 | 260,732 |
nssv16198524 | Remapped | Perfect | NW_003315943.1:g.( ?_253252)_(260732_ ?)dup | GRCh38.p12 | Second Pass | NW_003315943.1 | Chr15|NW_0 03315943.1 | 253,252 | 260,732 |
nssv16192159 | Remapped | Perfect | NW_011332701.1:g.( ?_715677)_(723157_ ?)del | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 715,677 | 723,157 |
nssv16198524 | Remapped | Perfect | NW_011332701.1:g.( ?_715677)_(723157_ ?)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 715,677 | 723,157 |
nssv16192159 | Remapped | Perfect | NC_000015.10:g.(?_ 28553672)_(2856115 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 28,553,672 | 28,561,152 |
nssv16198524 | Remapped | Perfect | NC_000015.10:g.(?_ 28553672)_(2856115 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 28,553,672 | 28,561,152 |
nssv16192159 | Submitted genomic | NC_000015.9:g.(?_2 8798818)_(28806298 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 28,798,818 | 28,806,298 | ||
nssv16198524 | Submitted genomic | NC_000015.9:g.(?_2 8798818)_(28806298 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 28,798,818 | 28,806,298 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16192159 | 0.027 | 23 | 845 |
nssv16198524 | 0.022 | 19 | 845 |