nsv3900422
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,970,268
- Description:GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)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: 6556 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 5078 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 1445 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3900422 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 145,601,946 | 148,572,213 |
| nsv3900422 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 145,376,675 | 147,860,552 |
| nsv3900422 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 144,088,032 | 146,327,176 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132861 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135335.5, VCV000146009.3 | 1 |
| nssv15138518 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141206.5, VCV000152673.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132861 | Submitted genomic | NC_000001.11:g.(?_ 145601946)_(148572 213_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,601,946 | 148,572,213 |
| nssv15138518 | Submitted genomic | NC_000001.11:g.(?_ 145601946)_(148572 213_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,601,946 | 148,572,213 |
| nssv15132861 | Submitted genomic | NC_000001.10:g.(?_ 145311043)_(147915 048_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,311,043 | 147,915,048 |
| nssv15138518 | Submitted genomic | NC_000001.10:g.(?_ 145376675)_(147860 552_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,376,675 | 147,860,552 |
| nssv15132861 | Submitted genomic | NC_000001.9:g.(?_1 44022400)_(1463816 72_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,022,400 | 146,381,672 |
| nssv15138518 | Submitted genomic | NC_000001.9:g.(?_1 44088032)_(1463271 76_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,088,032 | 146,327,176 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132861 | GRCh37: NC_000001.10:g.(?_145311043)_(147915048_?)del, GRCh38: NC_000001.11:g.(?_145601946)_(148572213_?)del, NCBI36: NC_000001.9:g.(?_144022400)_(146381672_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135335.5, VCV000146009.3 | 1 |
| nssv15138518 | GRCh37: NC_000001.10:g.(?_145376675)_(147860552_?)del, GRCh38: NC_000001.11:g.(?_145601946)_(148572213_?)del, NCBI36: NC_000001.9:g.(?_144088032)_(146327176_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141206.5, VCV000152673.3 | 1 |