nsv5016354
- 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:5,841
- 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: 181 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 179 SVs from 35 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5016354 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 40,993,919 (-30, +30) | 40,999,759 (-28, +28) | ||
nsv5016354 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 39,150,171 (-30, +30) | 39,156,011 (-28, +28) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16566422 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16566422 | Submitted genomic | NC_000017.11:g.(40 993889_40993949)_( 40999731_40999787) del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 40,993,919 (-30, +30) | 40,999,759 (-28, +28) | ||
nssv16566422 | Remapped | Perfect | NC_000017.10:g.(39 150141_39150201)_( 39155983_39156039) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 39,150,171 (-30, +30) | 39,156,011 (-28, +28) |
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) |
---|---|---|---|
nssv16566422 | <0.001 | 2 | 29246 |