nsv4662487
- 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:15,885
- Description:nsv4579620 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: 496 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 496 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4662487 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 16,937,587 | 16,953,471 |
| nsv4662487 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 17,264,082 | 17,279,966 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16182491 | duplication | Curated | Curated |
| nssv16191945 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16182491 | Remapped | Perfect | NC_000001.11:g.(?_ 16937587)_(1695347 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,937,587 | 16,953,471 |
| nssv16191945 | Remapped | Perfect | NC_000001.11:g.(?_ 16937587)_(1695347 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,937,587 | 16,953,471 |
| nssv16182491 | Submitted genomic | NC_000001.10:g.(?_ 17264082)_(1727996 6_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,264,082 | 17,279,966 | ||
| nssv16191945 | Submitted genomic | NC_000001.10:g.(?_ 17264082)_(1727996 6_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,264,082 | 17,279,966 |
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) |
|---|---|---|---|
| nssv16182491 | 0.027 | 23 | 845 |
| nssv16191945 | 0.014 | 12 | 845 |