nsv5017335
- 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:5,192
- 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: 397 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 397 SVs from 40 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5017335 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 3,416,785 (-25, +25) | 3,421,976 (-13, +13) | ||
nsv5017335 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 3,416,783 (-25, +25) | 3,421,974 (-13, +13) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16567561 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16567561 | Submitted genomic | NC_000018.10:g.(34 16760_3416810)_(34 21963_3421989)del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 3,416,785 (-25, +25) | 3,421,976 (-13, +13) | ||
nssv16567561 | Remapped | Perfect | NC_000018.9:g.(341 6758_3416808)_(342 1961_3421987)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 3,416,783 (-25, +25) | 3,421,974 (-13, +13) |
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) |
---|---|---|---|
nssv16567561 | <0.001 | 1 | 29246 |