nsv4909261
- 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:566,751
- 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: 1019 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 1009 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 286 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4909261 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 148,851,332 | 149,418,082 | ||
| nsv4909261 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 147,932,861 | 148,499,613 |
| nsv4909261 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,375,729 | 4,942,480 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16595952 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16595952 | Submitted genomic | NC_000023.11:g.148 851332_149418082du p | GRCh38 (hg38) | NC_000023.11 | ChrX | 148,851,332 | 149,418,082 | ||
| nssv16595952 | Remapped | Perfect | NW_004070890.2:g.4 375729_4942480dup | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,375,729 | 4,942,480 |
| nssv16595952 | Remapped | Perfect | NC_000023.10:g.147 932861_148499613du p | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 147,932,861 | 148,499,613 |
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) |
|---|---|---|---|
| nssv16595952 | <0.001 | 1 | 29246 |