nsv5001112
- 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:1,443
- 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: 635 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 635 SVs from 59 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5001112 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 30,942,618 (-3, +31) | 30,944,060 (-41, +3) | ||
nsv5001112 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 31,234,821 (-3, +31) | 31,236,263 (-41, +3) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16551378 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16551378 | Submitted genomic | NC_000015.10:g.(30 942615_30942649)_( 30944019_30944063) del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 30,942,618 (-3, +31) | 30,944,060 (-41, +3) | ||
nssv16551378 | Remapped | Perfect | NC_000015.9:g.(312 34818_31234852)_(3 1236222_31236266)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 31,234,821 (-3, +31) | 31,236,263 (-41, +3) |
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) |
---|---|---|---|
nssv16551378 | <0.001 | 1 | 29246 |