nsv3913128
- 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:41,791,575
- Description:GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)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: 116776 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 116775 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 30629 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 |
|---|---|---|---|---|---|---|---|
| nsv3913128 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 156,321,878 | 198,113,452 |
| nsv3913128 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 156,039,667 | 197,840,323 |
| nsv3913128 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 157,522,361 | 199,324,720 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147518 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140849.5, VCV000152257.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147518 | Submitted genomic | NC_000003.12:g.(?_ 156321878)_(198113 452_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 156,321,878 | 198,113,452 |
| nssv15147518 | Submitted genomic | NC_000003.11:g.(?_ 156039667)_(197840 323_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 156,039,667 | 197,840,323 |
| nssv15147518 | Submitted genomic | NC_000003.10:g.(?_ 157522361)_(199324 720_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 157,522,361 | 199,324,720 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147518 | GRCh37: NC_000003.11:g.(?_156039667)_(197840323_?)dup, GRCh38: NC_000003.12:g.(?_156321878)_(198113452_?)dup, NCBI36: NC_000003.10:g.(?_157522361)_(199324720_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000140849.5, VCV000152257.2 | 3 |