nsv3915227
- 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:404,643
- Description:GRCh38/hg38 20p13-12.3(chr20:5030412-5435054)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: 1361 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1361 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 336 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915227 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 5,030,412 | 5,435,054 |
| nsv3915227 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 5,011,058 | 5,415,700 |
| nsv3915227 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 4,959,058 | 5,363,700 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121154 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000052760.4, VCV000058966.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121154 | Submitted genomic | NC_000020.11:g.(?_ 5030412)_(5435054_ ?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 5,030,412 | 5,435,054 |
| nssv15121154 | Submitted genomic | NC_000020.10:g.(?_ 5011058)_(5415700_ ?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 5,011,058 | 5,415,700 |
| nssv15121154 | Submitted genomic | NC_000020.9:g.(?_4 959058)_(5363700_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 4,959,058 | 5,363,700 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121154 | GRCh37: NC_000020.10:g.(?_5011058)_(5415700_?)dup, GRCh38: NC_000020.11:g.(?_5030412)_(5435054_?)dup, NCBI36: NC_000020.9:g.(?_4959058)_(5363700_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000052760.4, VCV000058966.1 | 3 |