nsv3906950
- 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:3,057,584
- Description:GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 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: 7664 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 7594 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 1724 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3906950 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 154,566,501 | 157,624,084 |
| nsv3906950 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 154,538,977 | 157,593,874 |
| nsv3906950 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 152,805,601 | 155,860,498 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148897 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139902.4, VCV000151159.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148897 | Submitted genomic | NC_000001.11:g.(?_ 154566501)_(157624 084_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 154,566,501 | 157,624,084 |
| nssv15148897 | Submitted genomic | NC_000001.10:g.(?_ 154538977)_(157593 874_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 154,538,977 | 157,593,874 |
| nssv15148897 | Submitted genomic | NC_000001.9:g.(?_1 52805601)_(1558604 98_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 152,805,601 | 155,860,498 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148897 | GRCh37: NC_000001.10:g.(?_154538977)_(157593874_?)dup, GRCh38: NC_000001.11:g.(?_154566501)_(157624084_?)dup, NCBI36: NC_000001.9:g.(?_152805601)_(155860498_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000139902.4, VCV000151159.2 | 3 |