nsv4619643
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:490,688
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: 4313 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 4436 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4619643 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 22,010,207 | 22,500,894 |
| nsv4619643 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,478,446 | 22,969,877 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16133483 | duplication | Curated | Curated |
| nssv16147982 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16133483 | Remapped | Good | NC_000014.9:g.(?_2 2010207)_(22500894 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,010,207 | 22,500,894 |
| nssv16147982 | Remapped | Good | NC_000014.9:g.(?_2 2010207)_(22500894 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,010,207 | 22,500,894 |
| nssv16133483 | Submitted genomic | NC_000014.8:g.(?_2 2478446)_(22969877 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,478,446 | 22,969,877 | ||
| nssv16147982 | Submitted genomic | NC_000014.8:g.(?_2 2478446)_(22969877 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,478,446 | 22,969,877 |
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) |
|---|---|---|---|
| nssv16133483 | 0.002 | 9 | 5919 |
| nssv16147982 | <0.001 | 3 | 5919 |