nsv4965252
- 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:136,297
- 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: 362 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 362 SVs from 45 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4965252 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 48,860,910 (-54, +1) | 48,997,206 (-1, +65) | ||
nsv4965252 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 49,773,469 (-54, +1) | 49,909,765 (-1, +65) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16514242 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16514242 | Submitted genomic | NC_000008.11:g.(48 860856_48860911)_( 48997205_48997271) dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 48,860,910 (-54, +1) | 48,997,206 (-1, +65) | ||
nssv16514242 | Remapped | Perfect | NC_000008.10:g.(49 773415_49773470)_( 49909764_49909830) dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 49,773,469 (-54, +1) | 49,909,765 (-1, +65) |
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) |
---|---|---|---|
nssv16514242 | <0.001 | 1 | 29246 |