nsv3922528
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:32,363
- Description:GRCh38/hg38 19q13.43(chr19:58548841-58581203)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: 260 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 260 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 52 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922528 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 58,548,841 | 58,581,203 |
| nsv3922528 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 59,060,208 | 59,092,570 |
| nsv3922528 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 63,752,020 | 63,784,382 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133290 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000133726.4, VCV000144244.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133290 | Submitted genomic | NC_000019.10:g.(?_ 58548841)_(5858120 3_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 58,548,841 | 58,581,203 |
| nssv15133290 | Submitted genomic | NC_000019.9:g.(?_5 9060208)_(59092570 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 59,060,208 | 59,092,570 |
| nssv15133290 | Submitted genomic | NC_000019.8:g.(?_6 3752020)_(63784382 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 63,752,020 | 63,784,382 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133290 | GRCh37: NC_000019.9:g.(?_59060208)_(59092570_?)dup, GRCh38: NC_000019.10:g.(?_58548841)_(58581203_?)dup, NCBI36: NC_000019.8:g.(?_63752020)_(63784382_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000133726.4, VCV000144244.2 | 3 |