nsv4668529
- 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:92,185
- Description:nsv4609188 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: 374 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 374 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4668529 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 35,046,792 | 35,138,976 |
| nsv4668529 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 35,620,929 | 35,713,113 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16186298 | duplication | Curated | Curated |
| nssv16198903 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16186298 | Remapped | Perfect | NC_000013.11:g.(?_ 35046792)_(3513897 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 35,046,792 | 35,138,976 |
| nssv16198903 | Remapped | Perfect | NC_000013.11:g.(?_ 35046792)_(3513897 6_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 35,046,792 | 35,138,976 |
| nssv16186298 | Submitted genomic | NC_000013.10:g.(?_ 35620929)_(3571311 3_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 35,620,929 | 35,713,113 | ||
| nssv16198903 | Submitted genomic | NC_000013.10:g.(?_ 35620929)_(3571311 3_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 35,620,929 | 35,713,113 |
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) |
|---|---|---|---|
| nssv16186298 | 0.058 | 49 | 845 |
| nssv16198903 | 0.026 | 22 | 845 |