nsv4985740
- 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:603,447
- 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: 2542 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2544 SVs from 91 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4985740 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 128,105,846 (-1) | 128,709,292 (-1, +2) | ||
nsv4985740 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 130,868,125 (-1) | 131,471,571 (-1, +2) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16516252 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16516252 | Submitted genomic | NC_000009.12:g.(12 8105845_?)_(128709 291_128709294)dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 128,105,846 (-1) | 128,709,292 (-1, +2) | ||
nssv16516252 | Remapped | Perfect | NC_000009.11:g.(13 0868124_?)_(131471 570_131471573)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 130,868,125 (-1) | 131,471,571 (-1, +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) |
---|---|---|---|
nssv16516252 | <0.001 | 1 | 29246 |