nsv4791614
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,897,362
- 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: 18034 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 18056 SVs from 128 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4791614 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 43,356,169 (-11, +101) | 52,253,530 (-15, +15) |
nsv4791614 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 43,358,186 (-11, +101) | 53,119,696 (-15, +15) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16321592 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16321592 | Remapped | Pass | NC_000004.12:g.(43 356158_43356270)_( 52253515_52253545) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 43,356,169 (-11, +101) | 52,253,530 (-15, +15) |
nssv16321592 | Submitted genomic | NC_000004.11:g.(43 358175_43358287)_( 53119681_53119711) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 43,358,186 (-11, +101) | 53,119,696 (-15, +15) |
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) |
---|---|---|---|
nssv16321592 | <0.001 | 10 | 16834 |