nsv3907850
- 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:11,007,556
- Description:GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)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: 23785 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 23789 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 6280 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3907850 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 175,035,040 | 186,042,595 |
| nsv3907850 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 175,004,176 | 186,011,727 |
| nsv3907850 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 173,270,799 | 184,278,350 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133418 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051221.5, VCV000057510.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133418 | Submitted genomic | NC_000001.11:g.(?_ 175035040)_(186042 595_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 175,035,040 | 186,042,595 |
| nssv15133418 | Submitted genomic | NC_000001.10:g.(?_ 175004176)_(186011 727_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 175,004,176 | 186,011,727 |
| nssv15133418 | Submitted genomic | NC_000001.9:g.(?_1 73270799)_(1842783 50_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 173,270,799 | 184,278,350 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133418 | GRCh37: NC_000001.10:g.(?_175004176)_(186011727_?)del, GRCh38: NC_000001.11:g.(?_175035040)_(186042595_?)del, NCBI36: NC_000001.9:g.(?_173270799)_(184278350_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051221.5, VCV000057510.1 | 1 |