nsv3902511
- 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:4,070,431
- Description:GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)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: 8103 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 8086 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 2158 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 |
|---|---|---|---|---|---|---|---|
| nsv3902511 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 116,059,621 | 120,130,051 |
| nsv3902511 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 116,602,242 | 120,672,637 |
| nsv3902511 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 116,403,765 | 120,474,160 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146999 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051831.4, VCV000058088.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146999 | Submitted genomic | NC_000001.11:g.(?_ 116059621)_(120130 051_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 116,059,621 | 120,130,051 |
| nssv15146999 | Submitted genomic | NC_000001.10:g.(?_ 116602242)_(120672 637_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 116,602,242 | 120,672,637 |
| nssv15146999 | Submitted genomic | NC_000001.9:g.(?_1 16403765)_(1204741 60_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 116,403,765 | 120,474,160 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146999 | GRCh37: NC_000001.10:g.(?_116602242)_(120672637_?)dup, GRCh38: NC_000001.11:g.(?_116059621)_(120130051_?)dup, NCBI36: NC_000001.9:g.(?_116403765)_(120474160_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000051831.4, VCV000058088.1 | 3 |