nsv3912203
- 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:69,700
- Description:GRCh38/hg38 20q13.12(chr20:45304962-45374661)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: 288 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 288 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 54 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912203 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 45,304,962 | 45,374,661 |
| nsv3912203 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 43,933,602 | 44,003,301 |
| nsv3912203 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 43,367,016 | 43,436,715 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134496 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000135905.4, VCV000146648.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134496 | Submitted genomic | NC_000020.11:g.(?_ 45304962)_(4537466 1_?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 45,304,962 | 45,374,661 |
| nssv15134496 | Submitted genomic | NC_000020.10:g.(?_ 43933602)_(4400330 1_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 43,933,602 | 44,003,301 |
| nssv15134496 | Submitted genomic | NC_000020.9:g.(?_4 3367016)_(43436715 _?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 43,367,016 | 43,436,715 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134496 | GRCh37: NC_000020.10:g.(?_43933602)_(44003301_?)dup, GRCh38: NC_000020.11:g.(?_45304962)_(45374661_?)dup, NCBI36: NC_000020.9:g.(?_43367016)_(43436715_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000135905.4, VCV000146648.2 | 3 |