nsv4606985
- 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:115,278
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: 2762 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2762 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4606985 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,241,071 | 78,356,348 |
| nsv4606985 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 78,950,788 | 79,066,065 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16116071 | deletion | Curated | Curated |
| nssv16127389 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16116071 | Remapped | Perfect | NC_000006.12:g.(?_ 78241071)_(7835634 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,241,071 | 78,356,348 |
| nssv16127389 | Remapped | Perfect | NC_000006.12:g.(?_ 78241071)_(7835634 8_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,241,071 | 78,356,348 |
| nssv16116071 | Submitted genomic | NC_000006.11:g.(?_ 78950788)_(7906606 5_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,950,788 | 79,066,065 | ||
| nssv16127389 | Submitted genomic | NC_000006.11:g.(?_ 78950788)_(7906606 5_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,950,788 | 79,066,065 |
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) |
|---|---|---|---|
| nssv16116071 | 0.422 | 357 | 845 |
| nssv16127389 | 0.37 | 313 | 845 |