nsv3901050
- 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:2,967,476
- Description:GRCh38/hg38 1q32.1(chr1:200144603-203112078)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: 7459 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 7459 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1912 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3901050 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 200,144,603 | 203,112,078 |
| nsv3901050 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 200,113,731 | 203,081,206 |
| nsv3901050 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 198,380,354 | 201,347,829 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147229 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133625.5, VCV000144143.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147229 | Submitted genomic | NC_000001.11:g.(?_ 200144603)_(203112 078_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 200,144,603 | 203,112,078 |
| nssv15147229 | Submitted genomic | NC_000001.10:g.(?_ 200113731)_(203081 206_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 200,113,731 | 203,081,206 |
| nssv15147229 | Submitted genomic | NC_000001.9:g.(?_1 98380354)_(2013478 29_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 198,380,354 | 201,347,829 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147229 | GRCh37: NC_000001.10:g.(?_200113731)_(203081206_?)del, GRCh38: NC_000001.11:g.(?_200144603)_(203112078_?)del, NCBI36: NC_000001.9:g.(?_198380354)_(201347829_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000133625.5, VCV000144143.2 | 1 |