nsv3915352
- 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:601
- Description:GRCh38/hg38 7q36.3(chr7:155807064-155807664)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: 90 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 52 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915352 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 155,807,064 | 155,807,664 |
| nsv3915352 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 155,599,758 | 155,600,358 |
| nsv3915352 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 155,292,519 | 155,293,119 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120394 | copy number gain | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000136706.4, VCV000147536.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120394 | Submitted genomic | NC_000007.14:g.(?_ 155807064)_(155807 664_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 155,807,064 | 155,807,664 |
| nssv15120394 | Submitted genomic | NC_000007.13:g.(?_ 155599758)_(155600 358_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 155,599,758 | 155,600,358 |
| nssv15120394 | Submitted genomic | NC_000007.12:g.(?_ 155292519)_(155293 119_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 155,292,519 | 155,293,119 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120394 | GRCh37: NC_000007.13:g.(?_155599758)_(155600358_?)dup, GRCh38: NC_000007.14:g.(?_155807064)_(155807664_?)dup, NCBI36: NC_000007.12:g.(?_155292519)_(155293119_?)dup | copy number gain | see ClinVar for details | See cases | conflicting data from submitters | ClinVar | RCV000136706.4, VCV000147536.2 | 3 |