nsv4895208
- 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:84,448
- 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: 598 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 598 SVs from 74 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4895208 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 20,583,648 (-2, +72) | 20,668,095 (-55, +2) | ||
nsv4895208 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 20,910,141 (-2, +72) | 20,994,588 (-55, +2) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16418182 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16418182 | Submitted genomic | NC_000001.11:g.(20 583646_20583720)_( 20668040_20668097) del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 20,583,648 (-2, +72) | 20,668,095 (-55, +2) | ||
nssv16418182 | Remapped | Perfect | NC_000001.10:g.(20 910139_20910213)_( 20994533_20994590) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 20,910,141 (-2, +72) | 20,994,588 (-55, +2) |
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) |
---|---|---|---|
nssv16418182 | <0.001 | 1 | 29246 |