nsv3918149
- 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:42,006,675
- Description:GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)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: 117244 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 117243 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 30737 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 |
|---|---|---|---|---|---|---|---|
| nsv3918149 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 156,118,441 | 198,125,115 |
| nsv3918149 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 155,836,230 | 197,851,986 |
| nsv3918149 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 157,318,924 | 199,336,383 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147555 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142310.5, VCV000154213.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147555 | Submitted genomic | NC_000003.12:g.(?_ 156118441)_(198125 115_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 156,118,441 | 198,125,115 |
| nssv15147555 | Submitted genomic | NC_000003.11:g.(?_ 155836230)_(197851 986_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 155,836,230 | 197,851,986 |
| nssv15147555 | Submitted genomic | NC_000003.10:g.(?_ 157318924)_(199336 383_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 157,318,924 | 199,336,383 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147555 | GRCh37: NC_000003.11:g.(?_155836230)_(197851986_?)dup, GRCh38: NC_000003.12:g.(?_156118441)_(198125115_?)dup, NCBI36: NC_000003.10:g.(?_157318924)_(199336383_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142310.5, VCV000154213.2 | 3 |