nsv4966915
- 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:202,248
- 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: 1325 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1682 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 923 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4966915 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 142,593,473 | 142,795,720 | ||
| nsv4966915 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 142,326,199 | 142,494,030 |
| nsv4966915 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 777,260 | 998,764 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16498996 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16498996 | Submitted genomic | NC_000007.14:g.142 593473_142795720de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 142,593,473 | 142,795,720 | ||
| nssv16498996 | Remapped | Pass | NW_003571040.1:g.7 77260_998764del | GRCh37.p13 | Second Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 777,260 | 998,764 |
| nssv16498996 | Remapped | Pass | NC_000007.13:g.142 326199_142494030de l | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 142,326,199 | 142,494,030 |
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) |
|---|---|---|---|
| nssv16498996 | <0.001 | 1 | 29246 |