nsv3919618
- 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:7,003,705
- Description:GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)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: 19577 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 19579 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 5386 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919618 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 27,780,238 | 34,783,942 |
| nsv3919618 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 28,271,146 | 35,274,846 |
| nsv3919618 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 32,962,986 | 39,966,686 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139645 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143705.4, VCV000155638.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139645 | Submitted genomic | NC_000019.10:g.(?_ 27780238)_(3478394 2_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 27,780,238 | 34,783,942 |
| nssv15139645 | Submitted genomic | NC_000019.9:g.(?_2 8271146)_(35274846 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 28,271,146 | 35,274,846 |
| nssv15139645 | Submitted genomic | NC_000019.8:g.(?_3 2962986)_(39966686 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,962,986 | 39,966,686 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139645 | GRCh37: NC_000019.9:g.(?_28271146)_(35274846_?)dup, GRCh38: NC_000019.10:g.(?_27780238)_(34783942_?)dup, NCBI36: NC_000019.8:g.(?_32962986)_(39966686_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000143705.4, VCV000155638.2 | 3 |