nsv4982665
- 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:2,822
- 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: 142 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 142 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4982665 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 96,824,117 (-2, +65) | 96,826,938 (-71, +1) | ||
nsv4982665 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 99,586,399 (-2, +65) | 99,589,220 (-71, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16511581 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16511581 | Submitted genomic | NC_000009.12:g.(96 824115_96824182)_( 96826867_96826939) del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 96,824,117 (-2, +65) | 96,826,938 (-71, +1) | ||
nssv16511581 | Remapped | Perfect | NC_000009.11:g.(99 586397_99586464)_( 99589149_99589221) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 99,586,399 (-2, +65) | 99,589,220 (-71, +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) |
---|---|---|---|
nssv16511581 | <0.001 | 3 | 29246 |