nsv4685623
- 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:800,672
- Description:GRCh37/hg19 2p16.1(chr2:56141953-56942624)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: 2203 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 2203 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685623 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 55,914,818 | 56,715,489 |
| nsv4685623 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 56,141,953 | 56,942,624 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16216696 | copy number gain | Multiple | Multiple | not provided | not provided | ClinVar | RCV001249407.1, VCV000973059.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216696 | Remapped | Perfect | NC_000002.12:g.(?_ 55914818)_(5671548 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 55,914,818 | 56,715,489 |
| nssv16216696 | Submitted genomic | NC_000002.11:g.(?_ 56141953)_(5694262 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,141,953 | 56,942,624 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16216696 | GRCh37: NC_000002.11:g.(?_56141953)_(56942624_?)dup | copy number gain | unknown | not provided | not provided | ClinVar | RCV001249407.1, VCV000973059.1 | 3 |