nsv5001126
- 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:1,161
- 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: 613 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 613 SVs from 57 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5001126 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 31,391,619 (-26, +26) | 31,392,779 (-27, +27) | ||
nsv5001126 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 31,683,822 (-26, +26) | 31,684,982 (-27, +27) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16551399 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16551399 | Submitted genomic | NC_000015.10:g.(31 391593_31391645)_( 31392752_31392806) del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 31,391,619 (-26, +26) | 31,392,779 (-27, +27) | ||
nssv16551399 | Remapped | Perfect | NC_000015.9:g.(316 83796_31683848)_(3 1684955_31685009)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 31,683,822 (-26, +26) | 31,684,982 (-27, +27) |
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) |
---|---|---|---|
nssv16551399 | <0.001 | 2 | 29246 |