nsv3914166
- 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:11,373,360
- Description:GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)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: 30462 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 30464 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 7895 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914166 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 181,138,664 | 192,512,023 |
| nsv3914166 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 180,856,452 | 192,229,812 |
| nsv3914166 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 182,339,146 | 193,712,506 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146004 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142019.4, VCV000153734.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146004 | Submitted genomic | NC_000003.12:g.(?_ 181138664)_(192512 023_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 181,138,664 | 192,512,023 |
| nssv15146004 | Submitted genomic | NC_000003.11:g.(?_ 180856452)_(192229 812_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 180,856,452 | 192,229,812 |
| nssv15146004 | Submitted genomic | NC_000003.10:g.(?_ 182339146)_(193712 506_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 182,339,146 | 193,712,506 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146004 | GRCh37: NC_000003.11:g.(?_180856452)_(192229812_?)del, GRCh38: NC_000003.12:g.(?_181138664)_(192512023_?)del, NCBI36: NC_000003.10:g.(?_182339146)_(193712506_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142019.4, VCV000153734.2 | 1 |