nsv4781130
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:114,669
- 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: 564 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 566 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4781130 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 112,869,624 | 112,984,292 |
| nsv4781130 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_009646196.1 | Chr1|NW_00 9646196.1 | 1 | 74,871 |
| nsv4781130 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 113,412,246 | 113,526,914 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16383348 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16383348 | Remapped | Pass | NW_009646196.1:g.1 _74871dup | GRCh38.p12 | Second Pass | NW_009646196.1 | Chr1|NW_00 9646196.1 | 1 | 74,871 |
| nssv16383348 | Remapped | Perfect | NC_000001.11:g.112 869624_112984292du p | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 112,869,624 | 112,984,292 |
| nssv16383348 | Submitted genomic | NC_000001.10:g.113 412246_113526914du p | GRCh37 (hg19) | NC_000001.10 | Chr1 | 113,412,246 | 113,526,914 |
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) |
|---|---|---|---|
| nssv16383348 | <0.001 | 3 | 16834 |