nsv4676231
- 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:451,364
- Description:GRCh37/hg19 19q13.2(chr19:41889319-42338832)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: 1388 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 410 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 1315 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676231 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 41,383,414 | 41,834,777 |
| nsv4676231 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187620.1 | Chr19|NT_1 87620.1 | 1 | 233,762 |
| nsv4676231 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 41,889,319 | 42,338,832 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207399 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007049.1, VCV000816083.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207399 | Remapped | Pass | NT_187620.1:g.(?_1 )_(233762_?)dup | GRCh38.p12 | Second Pass | NT_187620.1 | Chr19|NT_1 87620.1 | 1 | 233,762 |
| nssv16207399 | Remapped | Good | NC_000019.10:g.(?_ 41383414)_(4183477 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 41,383,414 | 41,834,777 |
| nssv16207399 | Submitted genomic | NC_000019.9:g.(?_4 1889319)_(42338832 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 41,889,319 | 42,338,832 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207399 | GRCh37: NC_000019.9:g.(?_41889319)_(42338832_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001007049.1, VCV000816083.1 | 3 |