nsv4669980
- 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:11,448
- Description:nsv4621871 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: 314 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 314 SVs from 41 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4669980 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 31,253,582 | 31,265,029 |
| nsv4669980 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 29,580,600 | 29,592,047 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16182254 | deletion | Curated | Curated |
| nssv16204722 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16182254 | Remapped | Perfect | NC_000017.11:g.(?_ 31253582)_(3126502 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 31,253,582 | 31,265,029 |
| nssv16204722 | Remapped | Perfect | NC_000017.11:g.(?_ 31253582)_(3126502 9_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 31,253,582 | 31,265,029 |
| nssv16182254 | Submitted genomic | NC_000017.10:g.(?_ 29580600)_(2959204 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 29,580,600 | 29,592,047 | ||
| nssv16204722 | Submitted genomic | NC_000017.10:g.(?_ 29580600)_(2959204 7_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 29,580,600 | 29,592,047 |
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) |
|---|---|---|---|
| nssv16182254 | 0.011 | 9 | 845 |
| nssv16204722 | 0.045 | 38 | 845 |