nsv4905745
- 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:538,285
- 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: 882 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 882 SVs from 70 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4905745 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 90,515,274 (-3, +3) | 91,053,558 (-2, +2) | ||
nsv4905745 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 89,770,273 (-3, +3) | 90,308,557 (-2, +2) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16595431 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16595431 | Submitted genomic | NC_000023.11:g.(90 515271_90515277)_( 91053556_91053560) dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 90,515,274 (-3, +3) | 91,053,558 (-2, +2) | ||
nssv16595431 | Remapped | Perfect | NC_000023.10:g.(89 770270_89770276)_( 90308555_90308559) dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 89,770,273 (-3, +3) | 90,308,557 (-2, +2) |
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) |
---|---|---|---|
nssv16595431 | <0.001 | 2 | 29228 |