nsv4965774
- 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:1,028,835
- 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: 2823 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 2823 SVs from 92 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4965774 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 121,482,460 (-46, +3) | 122,511,294 (-3, +42) | ||
nsv4965774 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 122,494,700 (-46, +3) | 123,523,533 (-3, +42) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16515346 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16515346 | Submitted genomic | NC_000008.11:g.(12 1482414_121482463) _(122511291_122511 336)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 121,482,460 (-46, +3) | 122,511,294 (-3, +42) | ||
nssv16515346 | Remapped | Perfect | NC_000008.10:g.(12 2494654_122494703) _(123523530_123523 575)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,494,700 (-46, +3) | 123,523,533 (-3, +42) |
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) |
---|---|---|---|
nssv16515346 | <0.001 | 5 | 29246 |