nsv6637068
- 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:594,161
- Description:GRCh37/hg19 2q37.2-37.3(chr2:236876804-237470963)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: 1510 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1510 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637068 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 235,968,160 | 236,562,320 |
| nsv6637068 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 236,876,804 | 237,470,963 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330401 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002474661.1, VCV001808816.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330401 | Remapped | Perfect | NC_000002.12:g.(?_ 235968160)_(236562 320_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 235,968,160 | 236,562,320 |
| nssv18330401 | Submitted genomic | NC_000002.11:g.(?_ 236876804)_(237470 963_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 236,876,804 | 237,470,963 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330401 | GRCh37: NC_000002.11:g.(?_236876804)_(237470963_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002474661.1, VCV001808816.1 | 3 |