nsv4968272
- 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:10,078
- 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: 319 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 325 SVs from 34 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4968272 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 15,494,499 (-30, +33) | 15,504,576 (-26, +26) | ||
nsv4968272 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 15,494,497 (-30, +33) | 15,504,574 (-26, +26) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16508824 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16508824 | Submitted genomic | NC_000009.12:g.(15 494469_15494532)_( 15504550_15504602) del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 15,494,499 (-30, +33) | 15,504,576 (-26, +26) | ||
nssv16508824 | Remapped | Perfect | NC_000009.11:g.(15 494467_15494530)_( 15504548_15504600) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 15,494,497 (-30, +33) | 15,504,574 (-26, +26) |
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) |
---|---|---|---|
nssv16508824 | <0.001 | 1 | 29246 |