nsv4771779
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,812
- 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: 409 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 409 SVs from 24 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4771779 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 87,639,248 (-1, +3) | 87,641,059 (-3, +1) |
nsv4771779 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 86,894,248 (-1, +3) | 86,896,059 (-3, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16380957 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16380957 | Remapped | Perfect | NC_000023.11:g.(87 639247_87639251)_( 87641056_87641060) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 87,639,248 (-1, +3) | 87,641,059 (-3, +1) |
nssv16380957 | Submitted genomic | NC_000023.10:g.(86 894247_86894251)_( 86896056_86896060) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 86,894,248 (-1, +3) | 86,896,059 (-3, +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) |
---|---|---|---|
nssv16380957 | <0.001 | 1 | 16834 |