nsv3917522
- 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:1,006
- Description:GRCh38/hg38 3q26.33(chr3:181712160-181713165)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: 38 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917522 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 181,712,160 | 181,713,165 |
| nsv3917522 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 181,429,948 | 181,430,953 |
| nsv3917522 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 182,912,642 | 182,913,647 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121920 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000140433.3, VCV000151735.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121920 | Submitted genomic | NC_000003.12:g.(?_ 181712160)_(181713 165_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 181,712,160 | 181,713,165 |
| nssv15121920 | Submitted genomic | NC_000003.11:g.(?_ 181429948)_(181430 953_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 181,429,948 | 181,430,953 |
| nssv15121920 | Submitted genomic | NC_000003.10:g.(?_ 182912642)_(182913 647_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 182,912,642 | 182,913,647 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121920 | GRCh37: NC_000003.11:g.(?_181429948)_(181430953_?)dup, GRCh38: NC_000003.12:g.(?_181712160)_(181713165_?)dup, NCBI36: NC_000003.10:g.(?_182912642)_(182913647_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000140433.3, VCV000151735.1 | 3 |