nsv4671757
- 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:11,308
- Description:nsv4623463 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: 308 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 308 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4671757 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 31,223,988 | 31,235,295 |
| nsv4671757 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 29,551,006 | 29,562,313 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16187552 | deletion | Curated | Curated |
| nssv16194702 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16187552 | Remapped | Perfect | NC_000017.11:g.(?_ 31223988)_(3123529 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 31,223,988 | 31,235,295 |
| nssv16194702 | Remapped | Perfect | NC_000017.11:g.(?_ 31223988)_(3123529 5_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 31,223,988 | 31,235,295 |
| nssv16187552 | Submitted genomic | NC_000017.10:g.(?_ 29551006)_(2956231 3_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 29,551,006 | 29,562,313 | ||
| nssv16194702 | Submitted genomic | NC_000017.10:g.(?_ 29551006)_(2956231 3_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 29,551,006 | 29,562,313 |
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) |
|---|---|---|---|
| nssv16187552 | 0.019 | 16 | 845 |
| nssv16194702 | 0.044 | 37 | 845 |