nsv3920103
- 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:3,906,668
- Description:GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)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: 10834 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 10807 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 2637 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920103 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 101,525,795 | 105,432,462 |
| nsv3920103 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 101,169,076 | 105,072,909 |
| nsv3920103 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 100,955,796 | 104,860,145 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132274 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050705.6, VCV000057092.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132274 | Submitted genomic | NC_000007.14:g.(?_ 101525795)_(105432 462_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 101,525,795 | 105,432,462 |
| nssv15132274 | Submitted genomic | NC_000007.13:g.(?_ 101169076)_(105072 909_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 101,169,076 | 105,072,909 |
| nssv15132274 | Submitted genomic | NC_000007.12:g.(?_ 100955796)_(104860 145_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,955,796 | 104,860,145 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132274 | GRCh37: NC_000007.13:g.(?_101169076)_(105072909_?)dup, GRCh38: NC_000007.14:g.(?_101525795)_(105432462_?)dup, NCBI36: NC_000007.12:g.(?_100955796)_(104860145_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000050705.6, VCV000057092.1 | 3 |