nsv6291262
- 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:7,121,250
- Description:GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)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: 16621 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 16621 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291262 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 152,111,450 | 159,232,699 |
| nsv6291262 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 152,967,964 | 160,089,210 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957339 | copy number gain | Multiple | Multiple | not provided | not provided | ClinVar | RCV001825170.1, VCV001339787.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957339 | Remapped | Perfect | NC_000002.12:g.(?_ 152111450)_(159232 699_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 152,111,450 | 159,232,699 |
| nssv17957339 | Submitted genomic | NC_000002.11:g.(?_ 152967964)_(160089 210_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 152,967,964 | 160,089,210 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957339 | GRCh37: NC_000002.11:g.(?_152967964)_(160089210_?)dup | copy number gain | unknown | not provided | not provided | ClinVar | RCV001825170.1, VCV001339787.1 | 3 |