nsv4940492
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,394
- Publication(s):Abel et al. 2020
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: 132 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 23 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4940492 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 26,587,795 | 26,601,188 (-1) | ||
| nsv4940492 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000006.11 | Chr6 | 26,588,023 | 26,601,416 (-1) |
| nsv4940492 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070866.1 | Chr6|NW_00 4070866.1 | 2,181 | 15,574 (-1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16478476 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16478476 | Submitted genomic | NC_000006.12:g.265 87795_(26601187_?) del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 26,587,795 | 26,601,188 (-1) | ||
| nssv16478476 | Remapped | Perfect | NW_004070866.1:g.2 181_(15573_?)del | GRCh37.p13 | First Pass | NW_004070866.1 | Chr6|NW_00 4070866.1 | 2,181 | 15,574 (-1) |
| nssv16478476 | Remapped | Perfect | NC_000006.11:g.265 88023_(26601415_?) del | GRCh37.p13 | Second Pass | NC_000006.11 | Chr6 | 26,588,023 | 26,601,416 (-1) |
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) |
|---|---|---|---|
| nssv16478476 | <0.001 | 1 | 29246 |