nsv6636408
- 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:2,415,648
- Description:GRCh37/hg19 1p36.33-36.32(chr1:2194087-4738355)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: 10658 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 10653 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636408 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 2,262,648 | 4,678,295 |
| nsv6636408 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 2,194,087 | 4,738,355 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329960 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473692.1, VCV001808375.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329960 | Remapped | Pass | NC_000001.11:g.(?_ 2262648)_(4678295_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 2,262,648 | 4,678,295 |
| nssv18329960 | Submitted genomic | NC_000001.10:g.(?_ 2194087)_(4738355_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 2,194,087 | 4,738,355 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329960 | GRCh37: NC_000001.10:g.(?_2194087)_(4738355_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002473692.1, VCV001808375.1 | 3 |