nsv4825080
- 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:10,904
- 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: 207 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 209 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4825080 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,290,849 (-40, +27) | 76,301,752 (-24, +24) |
nsv4825080 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 75,920,166 (-40, +27) | 75,931,069 (-24, +24) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16396137 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16396137 | Remapped | Perfect | NC_000007.14:g.(76 290809_76290876)_( 76301728_76301776) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,290,849 (-40, +27) | 76,301,752 (-24, +24) |
nssv16396137 | Submitted genomic | NC_000007.13:g.(75 920126_75920193)_( 75931045_75931093) dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 75,920,166 (-40, +27) | 75,931,069 (-24, +24) |
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) |
---|---|---|---|
nssv16396137 | <0.001 | 2 | 16834 |