nsv3911724
- 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:10,069,127
- Description:GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)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: 24558 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 24558 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 6370 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911724 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 93,819,623 | 103,888,749 |
| nsv3911724 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 93,538,467 | 103,607,593 |
| nsv3911724 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 95,021,157 | 105,090,283 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148997 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000143259.5, VCV000155192.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148997 | Submitted genomic | NC_000003.12:g.(?_ 93819623)_(1038887 49_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 93,819,623 | 103,888,749 |
| nssv15148997 | Submitted genomic | NC_000003.11:g.(?_ 93538467)_(1036075 93_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 93,538,467 | 103,607,593 |
| nssv15148997 | Submitted genomic | NC_000003.10:g.(?_ 95021157)_(1050902 83_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 95,021,157 | 105,090,283 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148997 | GRCh37: NC_000003.11:g.(?_93538467)_(103607593_?)dup, GRCh38: NC_000003.12:g.(?_93819623)_(103888749_?)dup, NCBI36: NC_000003.10:g.(?_95021157)_(105090283_?)dup | copy number gain | de novo | See cases | Likely pathogenic | ClinVar | RCV000143259.5, VCV000155192.2 | 3 |