nsv4925853
- 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:152,732
- 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: 476 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 476 SVs from 54 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4925853 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 81,435,646 (-25, +25) | 81,588,377 (-17, +17) | ||
nsv4925853 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 82,356,800 (-25, +25) | 82,509,531 (-17, +17) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16472735 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16472735 | Submitted genomic | NC_000004.12:g.(81 435621_81435671)_( 81588360_81588394) dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 81,435,646 (-25, +25) | 81,588,377 (-17, +17) | ||
nssv16472735 | Remapped | Perfect | NC_000004.11:g.(82 356775_82356825)_( 82509514_82509548) dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 82,356,800 (-25, +25) | 82,509,531 (-17, +17) |
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) |
---|---|---|---|
nssv16472735 | <0.001 | 6 | 29246 |