nsv6637740
- 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:1,172,953
- Description:GRCh37/hg19 19q13.12-13.13(chr19:37389799-38562489)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: 3869 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 3865 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637740 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 36,898,897 | 38,071,849 |
| nsv6637740 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 37,389,799 | 38,562,489 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330850 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472711.1, VCV001807905.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330850 | Remapped | Good | NC_000019.10:g.(?_ 36898897)_(3807184 9_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 36,898,897 | 38,071,849 |
| nssv18330850 | Submitted genomic | NC_000019.9:g.(?_3 7389799)_(38562489 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 37,389,799 | 38,562,489 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330850 | GRCh37: NC_000019.9:g.(?_37389799)_(38562489_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472711.1, VCV001807905.1 | 3 |