nsv6611096
- 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:3,386
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: 304 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6611096 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 74,245,882 | 74,249,267 | ||
| nsv6611096 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 73,660,212 | 73,663,597 |
| nsv6611096 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,775,118 | 1,778,503 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18159519 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18159519 | Submitted genomic | NC_000007.14:g.742 45882_74249267del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 74,245,882 | 74,249,267 | ||
| nssv18159519 | Remapped | Perfect | NW_003871064.1:g.1 775118_1778503del | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,775,118 | 1,778,503 |
| nssv18159519 | Remapped | Perfect | NC_000007.13:g.736 60212_73663597del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 73,660,212 | 73,663,597 |
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) |
|---|---|---|---|
| nssv18159519 | <0.001 | 2 | 38668 |