nsv6615209
- 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:5,800
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: 180 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6615209 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 73,004,601 | 73,010,400 | ||
| nsv6615209 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 72,475,124 | 72,480,921 |
| nsv6615209 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 533,837 | 539,636 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18219635 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18219635 | Submitted genomic | NC_000007.14:g.730 04601_73010400dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 73,004,601 | 73,010,400 | ||
| nssv18219635 | Remapped | Perfect | NW_003871064.1:g.5 33837_539636dup | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 533,837 | 539,636 |
| nssv18219635 | Remapped | Good | NC_000007.13:g.724 75124_72480921dup | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 72,475,124 | 72,480,921 |
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) |
|---|---|---|---|
| nssv18219635 | <0.001 | 12 | 29062 |