nsv6603292
- 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:3,400
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: 148 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6603292 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 75,414,001 | 75,417,400 | ||
| nsv6603292 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 75,043,279 | 75,046,683 |
| nsv6603292 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,943,237 | 2,946,636 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18223783 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18223783 | Submitted genomic | NC_000007.14:g.754 14001_75417400dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 75,414,001 | 75,417,400 | ||
| nssv18223783 | Remapped | Perfect | NW_003871064.1:g.2 943237_2946636dup | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,943,237 | 2,946,636 |
| nssv18223783 | Remapped | Good | NC_000007.13:g.750 43279_75046683dup | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 75,043,279 | 75,046,683 |
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) |
|---|---|---|---|
| nssv18223783 | 0.004 | 167 | 39024 |