nsv3917409
- 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:13,351,950
- Description:GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)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: 38596 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 38590 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 9931 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917409 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 14,954,894 | 28,306,843 |
| nsv3917409 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 15,048,751 | 28,318,164 |
| nsv3917409 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 14,956,252 | 28,225,665 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145716 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051828.6, VCV000058085.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145716 | Submitted genomic | NC_000016.10:g.(?_ 14954894)_(2830684 3_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 14,954,894 | 28,306,843 |
| nssv15145716 | Submitted genomic | NC_000016.9:g.(?_1 5048751)_(28318164 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,048,751 | 28,318,164 |
| nssv15145716 | Submitted genomic | NC_000016.8:g.(?_1 4956252)_(28225665 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 14,956,252 | 28,225,665 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145716 | GRCh37: NC_000016.9:g.(?_15048751)_(28318164_?)dup, GRCh38: NC_000016.10:g.(?_14954894)_(28306843_?)dup, NCBI36: NC_000016.8:g.(?_14956252)_(28225665_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051828.6, VCV000058085.1 | 3 |