nsv3875336
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,335,905
- Description:GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)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: 3977 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 11942 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 4116 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3875336 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000007.14 | Chr7 | 58,093,723 | 62,429,627 |
| nsv3875336 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 143,721,526 | 149,232,481 | ||
| nsv3875336 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 142,513,049 | 147,499,105 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132982 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053700.5, VCV000059832.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15132982 | Remapped | Pass | GRCh38.p12 | Second Pass | NC_000007.14 | Chr7 | 58,093,723 | 62,429,627 | |
| nssv15132982 | Submitted genomic | NC_000001.10:g.(?_ 143721526)_(149232 481_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 143,721,526 | 149,232,481 | ||
| nssv15132982 | Submitted genomic | NC_000001.9:g.(?_1 42513049)_(1474991 05_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 142,513,049 | 147,499,105 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132982 | GRCh37: NC_000001.10:g.(?_143721526)_(149232481_?)del, NCBI36: NC_000001.9:g.(?_142513049)_(147499105_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053700.5, VCV000059832.1 | 1 |