nsv4794887
- 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:533,032
- 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: 1773 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1773 SVs from 82 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4794887 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 9,223,421 (-104) | 9,756,452 (-2, +85) |
nsv4794887 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 9,223,533 (-104) | 9,756,564 (-2, +85) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16394063 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16394063 | Remapped | Perfect | NC_000005.10:g.(92 23317_?)_(9756450_ 9756537)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 9,223,421 (-104) | 9,756,452 (-2, +85) |
nssv16394063 | Submitted genomic | NC_000005.9:g.(922 3429_?)_(9756562_9 756649)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 9,223,533 (-104) | 9,756,564 (-2, +85) |
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) |
---|---|---|---|
nssv16394063 | <0.001 | 1 | 16834 |