nsv4908547
- 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:425,156
- 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: 1405 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 1405 SVs from 66 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4908547 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 88,803,735 (-1, +115) | 89,228,890 (-141, +1) | ||
nsv4908547 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 88,058,736 (-1, +115) | 88,483,889 (-141, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16590285 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16590285 | Submitted genomic | NC_000023.11:g.(88 803734_88803850)_( 89228749_89228891) del | GRCh38 (hg38) | NC_000023.11 | ChrX | 88,803,735 (-1, +115) | 89,228,890 (-141, +1) | ||
nssv16590285 | Remapped | Perfect | NC_000023.10:g.(88 058735_88058851)_( 88483748_88483890) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 88,058,736 (-1, +115) | 88,483,889 (-141, +1) |
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) |
---|---|---|---|
nssv16590285 | <0.001 | 1 | 29246 |