nsv4584729
- 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:45
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: 139 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4584729 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 95,286,902 | 95,286,946 |
| nsv4584729 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 95,952,650 | 95,952,694 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16095382 | duplication | Curated | Curated |
| nssv16104684 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16095382 | Remapped | Perfect | NC_000002.12:g.(?_ 95286902)_(9528694 6_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 95,286,902 | 95,286,946 |
| nssv16104684 | Remapped | Perfect | NC_000002.12:g.(?_ 95286902)_(9528694 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 95,286,902 | 95,286,946 |
| nssv16095382 | Submitted genomic | NC_000002.11:g.(?_ 95952650)_(9595269 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 95,952,650 | 95,952,694 | ||
| nssv16104684 | Submitted genomic | NC_000002.11:g.(?_ 95952650)_(9595269 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 95,952,650 | 95,952,694 |
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) |
|---|---|---|---|
| nssv16095382 | 0.089 | 75 | 845 |
| nssv16104684 | 0.006 | 5 | 845 |