nsv3917200
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,844,352
- Description:NCBI36/hg18 1q32.2-32.3(chr1:206303429-210147777)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: 8772 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 8774 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 2454 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3917200 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 208,063,461 | 211,907,812 |
| nsv3917200 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 208,236,806 | 212,081,154 |
| nsv3917200 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 206,303,429 | 210,147,777 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141230 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510627.2, VCV000443566.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141230 | Remapped | Perfect | NC_000001.11:g.(?_ 208063461)_(211907 812_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 208,063,461 | 211,907,812 |
| nssv15141230 | Remapped | Perfect | NC_000001.10:g.(?_ 208236806)_(212081 154_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 208,236,806 | 212,081,154 |
| nssv15141230 | Submitted genomic | NC_000001.9:g.(?_2 06303429)_(2101477 77_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 206,303,429 | 210,147,777 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141230 | NCBI36: NC_000001.9:g.(?_206303429)_(210147777_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000510627.2, VCV000443566.2 | 1 |