nsv3914762
- 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:20,647,311
- Description:GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)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: 51486 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 51490 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 12690 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914762 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 167,717,962 | 188,365,272 |
| nsv3914762 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 167,435,750 | 188,083,060 |
| nsv3914762 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 168,918,444 | 189,565,754 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147549 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000142107.6, VCV000153893.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147549 | Submitted genomic | NC_000003.12:g.(?_ 167717962)_(188365 272_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 167,717,962 | 188,365,272 |
| nssv15147549 | Submitted genomic | NC_000003.11:g.(?_ 167435750)_(188083 060_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 167,435,750 | 188,083,060 |
| nssv15147549 | Submitted genomic | NC_000003.10:g.(?_ 168918444)_(189565 754_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 168,918,444 | 189,565,754 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147549 | GRCh37: NC_000003.11:g.(?_167435750)_(188083060_?)dup, GRCh38: NC_000003.12:g.(?_167717962)_(188365272_?)dup, NCBI36: NC_000003.10:g.(?_168918444)_(189565754_?)dup | copy number gain | not provided | See cases | Likely pathogenic | ClinVar | RCV000142107.6, VCV000153893.2 | 3 |