nsv4782435
- 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:160,888
- 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: 715 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 711 SVs from 63 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4782435 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 152,677,878 (-55, +2) | 152,838,765 (-2, +54) |
nsv4782435 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 151,846,338 (-55, +2) | 152,007,309 (-2, +54) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16409524 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16409524 | Remapped | Good | NC_000023.11:g.(15 2677823_152677880) _(152838763_152838 819)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,677,878 (-55, +2) | 152,838,765 (-2, +54) |
nssv16409524 | Submitted genomic | NC_000023.10:g.(15 1846283_151846340) _(152007307_152007 363)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 151,846,338 (-55, +2) | 152,007,309 (-2, +54) |
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) |
---|---|---|---|
nssv16409524 | <0.001 | 2 | 16834 |