nsv3918940
- 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:1,338,230
- Description:GRCh38/hg38 19p12(chr19:20637987-21976216)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: 6137 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 6130 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 1604 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918940 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 20,637,987 | 21,976,216 |
| nsv3918940 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 20,820,793 | 22,159,018 |
| nsv3918940 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 20,612,633 | 21,950,858 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139451 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142012.5, VCV000153725.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139451 | Submitted genomic | NC_000019.10:g.(?_ 20637987)_(2197621 6_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 20,637,987 | 21,976,216 |
| nssv15139451 | Submitted genomic | NC_000019.9:g.(?_2 0820793)_(22159018 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,820,793 | 22,159,018 |
| nssv15139451 | Submitted genomic | NC_000019.8:g.(?_2 0612633)_(21950858 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 20,612,633 | 21,950,858 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139451 | GRCh37: NC_000019.9:g.(?_20820793)_(22159018_?)dup, GRCh38: NC_000019.10:g.(?_20637987)_(21976216_?)dup, NCBI36: NC_000019.8:g.(?_20612633)_(21950858_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000142012.5, VCV000153725.2 | 3 |