nsv4905514
- 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:99,381
- 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: 611 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 611 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4905514 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 53,359,122 (-1) | 53,458,502 (-1, +1) | ||
| nsv4905514 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 53,386,045 (-1) | 53,485,449 (-1, +1) |
| nsv4905514 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,072,237 (-1) | 3,171,617 (-1, +1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16595218 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16595218 | Submitted genomic | NC_000023.11:g.(53 359121_?)_(5345850 1_53458503)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,359,122 (-1) | 53,458,502 (-1, +1) | ||
| nssv16595218 | Remapped | Perfect | NW_004070877.1:g.( 3072236_?)_(317161 6_3171618)dup | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,072,237 (-1) | 3,171,617 (-1, +1) |
| nssv16595218 | Remapped | Good | NC_000023.10:g.(53 386044_?)_(5348544 8_53485450)dup | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,386,045 (-1) | 53,485,449 (-1, +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) |
|---|---|---|---|
| nssv16595218 | <0.001 | 1 | 29246 |