nsv3922457
- 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:13,865,000
- Description:GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)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: 45805 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 45779 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 12204 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922457 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 13,974,677 | 27,839,676 |
| nsv3922457 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 14,085,489 | 28,330,584 |
| nsv3922457 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 13,946,489 | 33,022,424 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147146 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052912.5, VCV000059114.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147146 | Submitted genomic | NC_000019.10:g.(?_ 13974677)_(2783967 6_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 13,974,677 | 27,839,676 |
| nssv15147146 | Submitted genomic | NC_000019.9:g.(?_1 4085489)_(28330584 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 14,085,489 | 28,330,584 |
| nssv15147146 | Submitted genomic | NC_000019.8:g.(?_1 3946489)_(33022424 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 13,946,489 | 33,022,424 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147146 | GRCh37: NC_000019.9:g.(?_14085489)_(28330584_?)dup, GRCh38: NC_000019.10:g.(?_13974677)_(27839676_?)dup, NCBI36: NC_000019.8:g.(?_13946489)_(33022424_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052912.5, VCV000059114.1 | 3 |