nsv3908990
- 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:1,500,152
- Description:GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)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: 4123 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 4123 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1064 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3908990 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 36,809,304 | 38,309,455 |
| nsv3908990 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 37,036,447 | 38,536,597 |
| nsv3908990 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 36,889,951 | 38,390,101 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132615 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000050907.4, VCV000057240.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132615 | Submitted genomic | NC_000002.12:g.(?_ 36809304)_(3830945 5_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 36,809,304 | 38,309,455 |
| nssv15132615 | Submitted genomic | NC_000002.11:g.(?_ 37036447)_(3853659 7_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 37,036,447 | 38,536,597 |
| nssv15132615 | Submitted genomic | NC_000002.10:g.(?_ 36889951)_(3839010 1_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 36,889,951 | 38,390,101 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132615 | GRCh37: NC_000002.11:g.(?_37036447)_(38536597_?)dup, GRCh38: NC_000002.12:g.(?_36809304)_(38309455_?)dup, NCBI36: NC_000002.10:g.(?_36889951)_(38390101_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000050907.4, VCV000057240.1 | 3 |