nsv4684141
- 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:1,235,177
- Description:GRCh37/hg19 2q37.3(chr2:241810850-243048760)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 8128 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 8143 SVs from 123 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684141 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 240,871,433 | 242,106,609 |
| nsv4684141 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 241,810,850 | 243,048,760 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215258 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001194552.1, VCV000929352.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215258 | Remapped | Good | NC_000002.12:g.(?_ 240871433)_(242106 609_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 240,871,433 | 242,106,609 |
| nssv16215258 | Submitted genomic | NC_000002.11:g.(?_ 241810850)_(243048 760_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 241,810,850 | 243,048,760 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215258 | GRCh37: NC_000002.11:g.(?_241810850)_(243048760_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV001194552.1, VCV000929352.1 | 3 |