nsv3920398
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:396,511
- Description:GRCh38/hg38 19q13.32(chr19:46434490-46831000)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: 1532 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1532 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 354 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920398 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 46,434,490 | 46,831,000 |
| nsv3920398 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 46,937,747 | 47,334,257 |
| nsv3920398 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 51,629,587 | 52,026,097 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132472 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000050320.8, VCV000033175.2 | 3 |
| nssv15139727 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000148268.2, VCV000161062.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132472 | Submitted genomic | NC_000019.10:g.(?_ 46434490)_(4683100 0_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 46,434,490 | 46,831,000 |
| nssv15139727 | Submitted genomic | NC_000019.10:g.(?_ 46434490)_(4683100 0_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 46,434,490 | 46,831,000 |
| nssv15132472 | Submitted genomic | NC_000019.9:g.(?_4 6937747)_(47334257 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 46,937,747 | 47,334,257 |
| nssv15139727 | Submitted genomic | NC_000019.9:g.(?_4 6937747)_(47334257 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 46,937,747 | 47,334,257 |
| nssv15132472 | Submitted genomic | NC_000019.8:g.(?_5 1629587)_(52026097 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 51,629,587 | 52,026,097 |
| nssv15139727 | Submitted genomic | NC_000019.8:g.(?_5 1629587)_(52026097 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 51,629,587 | 52,026,097 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132472 | GRCh37: NC_000019.9:g.(?_46937747)_(47334257_?)dup, GRCh38: NC_000019.10:g.(?_46434490)_(46831000_?)dup, NCBI36: NC_000019.8:g.(?_51629587)_(52026097_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000050320.8, VCV000033175.2 | 3 |
| nssv15139727 | GRCh37: NC_000019.9:g.(?_46937747)_(47334257_?)dup, GRCh38: NC_000019.10:g.(?_46434490)_(46831000_?)dup, NCBI36: NC_000019.8:g.(?_51629587)_(52026097_?)dup | copy number gain | paternal | See cases | Uncertain significance | ClinVar | RCV000148268.2, VCV000161062.1 | 3 |