nsv3918390
- 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:598,410
- Description:GRCh38/hg38 20p12.1(chr20:16704727-17303136)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: 1423 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1423 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 274 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918390 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 16,704,727 | 17,303,136 |
| nsv3918390 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 16,685,372 | 17,283,781 |
| nsv3918390 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 16,633,372 | 17,231,781 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134663 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000138047.4, VCV000148986.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134663 | Submitted genomic | NC_000020.11:g.(?_ 16704727)_(1730313 6_?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 16,704,727 | 17,303,136 |
| nssv15134663 | Submitted genomic | NC_000020.10:g.(?_ 16685372)_(1728378 1_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 16,685,372 | 17,283,781 |
| nssv15134663 | Submitted genomic | NC_000020.9:g.(?_1 6633372)_(17231781 _?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 16,633,372 | 17,231,781 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134663 | GRCh37: NC_000020.10:g.(?_16685372)_(17283781_?)dup, GRCh38: NC_000020.11:g.(?_16704727)_(17303136_?)dup, NCBI36: NC_000020.9:g.(?_16633372)_(17231781_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000138047.4, VCV000148986.2 | 3 |