nsv6636416
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:324,899
- Description:GRCh37/hg19 1p36.33(chr1:849467-1174365)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3151 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 3151 SVs from 104 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636416 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 914,087 | 1,238,985 |
| nsv6636416 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 849,467 | 1,174,365 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329701 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473433.1, VCV001808116.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329701 | Remapped | Perfect | NC_000001.11:g.(?_ 914087)_(1238985_? )dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 914,087 | 1,238,985 |
| nssv18329701 | Submitted genomic | NC_000001.10:g.(?_ 849467)_(1174365_? )dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 849,467 | 1,174,365 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329701 | GRCh37: NC_000001.10:g.(?_849467)_(1174365_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002473433.1, VCV001808116.1 | 3 |