nsv5013810
- 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:1,611
- 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: 141 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 21 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5013810 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 50,757,828 (-36, +2) | 50,759,438 (+30) | ||
nsv5013810 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 48,835,189 (-36, +2) | 48,836,799 (+30) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16575507 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16575507 | Submitted genomic | NC_000017.11:g.(50 757792_50757830)_( ?_50759468)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 50,757,828 (-36, +2) | 50,759,438 (+30) | ||
nssv16575507 | Remapped | Perfect | NC_000017.10:g.(48 835153_48835191)_( ?_48836829)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 48,835,189 (-36, +2) | 48,836,799 (+30) |
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) |
---|---|---|---|
nssv16575507 | <0.001 | 1 | 29246 |