nsv4992342
- 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:1,073
- 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: 183 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4992342 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 74,658,705 (-53, +89) | 74,659,777 (-100, +29) | ||
nsv4992342 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 74,951,046 (-53, +89) | 74,952,118 (-100, +29) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16552519 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16552519 | Submitted genomic | NC_000015.10:g.(74 658652_74658794)_( 74659677_74659806) del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 74,658,705 (-53, +89) | 74,659,777 (-100, +29) | ||
nssv16552519 | Remapped | Perfect | NC_000015.9:g.(749 50993_74951135)_(7 4952018_74952147)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 74,951,046 (-53, +89) | 74,952,118 (-100, +29) |
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) |
---|---|---|---|
nssv16552519 | <0.001 | 1 | 29246 |