nsv4654925
- 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:112
- Description:nsv4262651 from gnomAD Structural Variants and nsv4859042 from Abel et. al 2020. 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: 126 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4654925 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 76,732,120 | 76,732,231 |
| nsv4654925 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 74,728,202 | 74,728,313 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16168123 | deletion | Curated | Curated |
| nssv16881330 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16168123 | Remapped | Perfect | NC_000017.11:g.767 32120_76732231del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 76,732,120 | 76,732,231 |
| nssv16881330 | Remapped | Perfect | NC_000017.11:g.767 32120_76732231del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 76,732,120 | 76,732,231 |
| nssv16168123 | Submitted genomic | NC_000017.10:g.747 28202_74728313del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 74,728,202 | 74,728,313 | ||
| nssv16881330 | Submitted genomic | NC_000017.10:g.747 28202_74728313del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 74,728,202 | 74,728,313 |
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) |
|---|---|---|---|
| nssv16168123 | 0.043 | 926 | 21330 |
| nssv16881330 | 0.036 | 606 | 16834 |