nsv4602762
- 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:138
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: 104 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4602762 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 130,872,203 | 130,872,340 |
| nsv4602762 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 131,356,748 | 131,356,885 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16148218 | duplication | Curated | Curated |
| nssv16148668 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16148218 | Remapped | Perfect | NC_000012.12:g.(?_ 130872203)_(130872 340_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 130,872,203 | 130,872,340 |
| nssv16148668 | Remapped | Perfect | NC_000012.12:g.(?_ 130872203)_(130872 340_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 130,872,203 | 130,872,340 |
| nssv16148218 | Submitted genomic | NC_000012.11:g.(?_ 131356748)_(131356 885_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 131,356,748 | 131,356,885 | ||
| nssv16148668 | Submitted genomic | NC_000012.11:g.(?_ 131356748)_(131356 885_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 131,356,748 | 131,356,885 |
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) |
|---|---|---|---|
| nssv16148218 | 0.018 | 15 | 845 |
| nssv16148668 | 0.001 | 1 | 845 |