nsv3905127
- 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:41,328,214
- Description:GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)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: 108703 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 108611 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 28815 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 |
|---|---|---|---|---|---|---|---|
| nsv3905127 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 53,308 | 41,381,521 |
| nsv3905127 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 94,991 | 41,423,012 |
| nsv3905127 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 69,991 | 41,398,016 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148928 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141810.6, VCV000153415.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148928 | Submitted genomic | NC_000003.12:g.(?_ 53308)_(41381521_? )dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 53,308 | 41,381,521 |
| nssv15148928 | Submitted genomic | NC_000003.11:g.(?_ 94991)_(41423012_? )dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 94,991 | 41,423,012 |
| nssv15148928 | Submitted genomic | NC_000003.10:g.(?_ 69991)_(41398016_? )dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,991 | 41,398,016 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148928 | GRCh37: NC_000003.11:g.(?_94991)_(41423012_?)dup, GRCh38: NC_000003.12:g.(?_53308)_(41381521_?)dup, NCBI36: NC_000003.10:g.(?_69991)_(41398016_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141810.6, VCV000153415.2 | 3 |