nsv3905218
- 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:9,294,726
- Description:GRCh38/hg38 1q43-44(chr1:239629868-248924593)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: 33333 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 33259 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 8903 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3905218 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 239,629,868 | 248,924,593 |
| nsv3905218 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 239,793,168 | 249,218,792 |
| nsv3905218 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 237,859,791 | 247,185,415 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146500 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054024.7, VCV000060150.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146500 | Submitted genomic | NC_000001.11:g.(?_ 239629868)_(248924 593_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 239,629,868 | 248,924,593 |
| nssv15146500 | Submitted genomic | NC_000001.10:g.(?_ 239793168)_(249218 792_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 239,793,168 | 249,218,792 |
| nssv15146500 | Submitted genomic | NC_000001.9:g.(?_2 37859791)_(2471854 15_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 237,859,791 | 247,185,415 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146500 | GRCh37: NC_000001.10:g.(?_239793168)_(249218792_?)del, GRCh38: NC_000001.11:g.(?_239629868)_(248924593_?)del, NCBI36: NC_000001.9:g.(?_237859791)_(247185415_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000054024.7, VCV000060150.2 | 1 |