nsv4612263
- 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:175,900
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: 1693 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1695 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4612263 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 159,157,413 | 159,333,312 |
| nsv4612263 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 158,950,105 | 159,126,002 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16131242 | deletion | Curated | Curated |
| nssv16131603 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16131242 | Remapped | Good | NC_000007.14:g.(?_ 159157413)_(159333 312_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 159,157,413 | 159,333,312 |
| nssv16131603 | Remapped | Good | NC_000007.14:g.(?_ 159157413)_(159333 312_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 159,157,413 | 159,333,312 |
| nssv16131242 | Submitted genomic | NC_000007.13:g.(?_ 158950105)_(159126 002_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 158,950,105 | 159,126,002 | ||
| nssv16131603 | Submitted genomic | NC_000007.13:g.(?_ 158950105)_(159126 002_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 158,950,105 | 159,126,002 |
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) |
|---|---|---|---|
| nssv16131242 | <0.001 | 1 | 5919 |
| nssv16131603 | <0.001 | 4 | 5919 |