nsv3916669
- 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:14,846,300
- Description:GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1 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: 39715 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 39838 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 10449 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916669 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 74,649,382 | 89,495,681 |
| nsv3916669 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 74,698,533 | 89,544,831 |
| nsv3916669 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 74,781,223 | 89,627,521 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139329 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143665.6, VCV000155598.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139329 | Submitted genomic | NC_000003.12:g.(?_ 74649382)_(8949568 1_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 74,649,382 | 89,495,681 |
| nssv15139329 | Submitted genomic | NC_000003.11:g.(?_ 74698533)_(8954483 1_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 74,698,533 | 89,544,831 |
| nssv15139329 | Submitted genomic | NC_000003.10:g.(?_ 74781223)_(8962752 1_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 74,781,223 | 89,627,521 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139329 | GRCh37: NC_000003.11:g.(?_74698533)_(89544831_?)del, GRCh38: NC_000003.12:g.(?_74649382)_(89495681_?)del, NCBI36: NC_000003.10:g.(?_74781223)_(89627521_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143665.6, VCV000155598.2 | 1 |