nsv5004262
- 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:748,553
- 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: 5274 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 5104 SVs from 103 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5004262 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 131,728,030 | 132,476,582 | ||
| nsv5004262 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 132,212,575 | 133,053,168 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16554165 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16554165 | Submitted genomic | NC_000012.12:g.131 728030_132476582du p | GRCh38 (hg38) | NC_000012.12 | Chr12 | 131,728,030 | 132,476,582 | ||
| nssv16554165 | Remapped | Pass | NC_000012.11:g.132 212575_133053168du p | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,212,575 | 133,053,168 |
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) |
|---|---|---|---|
| nssv16554165 | <0.001 | 1 | 29246 |