nsv4900545
- 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:21,856
- 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: 156 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 29 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4900545 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 21,000,518 | 21,022,373 | ||
nsv4900545 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 21,223,390 | 21,245,245 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16427001 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16427001 | Submitted genomic | NC_000002.12:g.210 00518_21022373del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 21,000,518 | 21,022,373 | ||
nssv16427001 | Remapped | Perfect | NC_000002.11:g.212 23390_21245245del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 21,223,390 | 21,245,245 |
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) |
---|---|---|---|
nssv16427001 | <0.001 | 1 | 29246 |