nsv6613940
- Organism: Homo sapiens
- Study:nstd223 (Sedlazeck 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:6,310
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: 161 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 149 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 16 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6613940 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 102,405,160 | 102,411,469 | ||
| nsv6613940 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 102,045,607 | 102,051,916 |
| nsv6613940 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571037.1 | Chr7|NW_00 3571037.1 | 329,490 | 335,799 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18151268 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18151268 | Submitted genomic | NC_000007.14:g.102 405160_102411469de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 102,405,160 | 102,411,469 | ||
| nssv18151268 | Remapped | Perfect | NW_003571037.1:g.3 29490_335799del | GRCh37.p13 | First Pass | NW_003571037.1 | Chr7|NW_00 3571037.1 | 329,490 | 335,799 |
| nssv18151268 | Remapped | Perfect | NC_000007.13:g.102 045607_102051916de l | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 102,045,607 | 102,051,916 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv18151268 | <0.001 | 1 | 39124 |