nsv4789323
- 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:1,715
- 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: 127 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 22 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4789323 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 204,650,481 (-1, +1) | 204,652,195 (+1) |
nsv4789323 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 204,619,609 (-1, +1) | 204,621,323 (+1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16316752 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16316752 | Remapped | Perfect | NC_000001.11:g.(20 4650480_204650482) _(?_204652196)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 204,650,481 (-1, +1) | 204,652,195 (+1) |
nssv16316752 | Submitted genomic | NC_000001.10:g.(20 4619608_204619610) _(?_204621324)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 204,619,609 (-1, +1) | 204,621,323 (+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) |
---|---|---|---|
nssv16316752 | <0.001 | 1 | 16834 |