nsv3917152
- 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:145,639
- Description:GRCh38/hg38 7q22.1(chr7:101337416-101483054)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: 1120 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1120 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 289 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917152 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 101,337,416 | 101,483,054 |
| nsv3917152 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 100,980,697 | 101,126,335 |
| nsv3917152 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 100,767,417 | 100,913,055 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121667 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000135210.4, VCV000145884.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121667 | Submitted genomic | NC_000007.14:g.(?_ 101337416)_(101483 054_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 101,337,416 | 101,483,054 |
| nssv15121667 | Submitted genomic | NC_000007.13:g.(?_ 100980697)_(101126 335_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,980,697 | 101,126,335 |
| nssv15121667 | Submitted genomic | NC_000007.12:g.(?_ 100767417)_(100913 055_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,767,417 | 100,913,055 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121667 | GRCh37: NC_000007.13:g.(?_100980697)_(101126335_?)dup, GRCh38: NC_000007.14:g.(?_101337416)_(101483054_?)dup, NCBI36: NC_000007.12:g.(?_100767417)_(100913055_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000135210.4, VCV000145884.1 | 3 |