nsv3914075
- 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:7,641,558
- Description:GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)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: 18679 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 18683 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 4340 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914075 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 20,960,320 | 28,601,877 |
| nsv3914075 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 18,540,281 | 26,181,841 |
| nsv3914075 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 16,794,279 | 24,435,839 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133156 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052545.5, VCV000058758.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133156 | Submitted genomic | NC_000018.10:g.(?_ 20960320)_(2860187 7_?)dup | GRCh38 (hg38) | NC_000018.10 | Chr18 | 20,960,320 | 28,601,877 |
| nssv15133156 | Submitted genomic | NC_000018.9:g.(?_1 8540281)_(26181841 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 18,540,281 | 26,181,841 |
| nssv15133156 | Submitted genomic | NC_000018.8:g.(?_1 6794279)_(24435839 _?)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 16,794,279 | 24,435,839 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133156 | GRCh37: NC_000018.9:g.(?_18540281)_(26181841_?)dup, GRCh38: NC_000018.10:g.(?_20960320)_(28601877_?)dup, NCBI36: NC_000018.8:g.(?_16794279)_(24435839_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052545.5, VCV000058758.1 | 3 |