nsv3900298
- 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:25,307,444
- Description:GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)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: 59993 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 59995 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 15289 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3900298 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 58,279,519 | 83,586,962 |
| nsv3900298 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 58,506,654 | 83,814,086 |
| nsv3900298 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 58,360,158 | 83,667,597 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135243 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136053.6, VCV000146814.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135243 | Submitted genomic | NC_000002.12:g.(?_ 58279519)_(8358696 2_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 58,279,519 | 83,586,962 |
| nssv15135243 | Submitted genomic | NC_000002.11:g.(?_ 58506654)_(8381408 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 58,506,654 | 83,814,086 |
| nssv15135243 | Submitted genomic | NC_000002.10:g.(?_ 58360158)_(8366759 7_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 58,360,158 | 83,667,597 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135243 | GRCh37: NC_000002.11:g.(?_58506654)_(83814086_?)dup, GRCh38: NC_000002.12:g.(?_58279519)_(83586962_?)dup, NCBI36: NC_000002.10:g.(?_58360158)_(83667597_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000136053.6, VCV000146814.2 | 3 |