nsv4997204
- 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:13,869,768
- 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: 33943 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 33944 SVs from 133 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4997204 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 43,050,455 (-1, +1) | 56,920,222 (-1) | ||
nsv4997204 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 43,624,591 (-1, +1) | 57,494,356 (-1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16542314 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16542314 | Submitted genomic | NC_000013.11:g.(43 050454_43050456)_( 56920221_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 43,050,455 (-1, +1) | 56,920,222 (-1) | ||
nssv16542314 | Remapped | Perfect | NC_000013.10:g.(43 624590_43624592)_( 57494355_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 43,624,591 (-1, +1) | 57,494,356 (-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) |
---|---|---|---|
nssv16542314 | <0.001 | 1 | 29246 |