nsv4602307
- 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:420
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: 231 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4602307 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 132,619,453 | 132,619,872 |
| nsv4602307 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 133,196,039 | 133,196,458 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16147946 | duplication | Curated | Curated |
| nssv16149158 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16147946 | Remapped | Perfect | NC_000012.12:g.(?_ 132619453)_(132619 872_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,619,453 | 132,619,872 |
| nssv16149158 | Remapped | Perfect | NC_000012.12:g.(?_ 132619453)_(132619 872_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,619,453 | 132,619,872 |
| nssv16147946 | Submitted genomic | NC_000012.11:g.(?_ 133196039)_(133196 458_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,196,039 | 133,196,458 | ||
| nssv16149158 | Submitted genomic | NC_000012.11:g.(?_ 133196039)_(133196 458_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,196,039 | 133,196,458 |
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) |
|---|---|---|---|
| nssv16147946 | 0.047 | 40 | 845 |
| nssv16149158 | 0.059 | 50 | 845 |