nsv3919481
- 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:388,743
- Description:GRCh38/hg38 7q21.12-21.13(chr7:88131360-88520102)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: 846 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 846 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 149 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919481 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 88,131,360 | 88,520,102 |
| nsv3919481 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 87,760,675 | 88,149,417 |
| nsv3919481 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 87,598,611 | 87,987,353 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121943 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000053466.6, VCV000059622.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121943 | Submitted genomic | NC_000007.14:g.(?_ 88131360)_(8852010 2_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 88,131,360 | 88,520,102 |
| nssv15121943 | Submitted genomic | NC_000007.13:g.(?_ 87760675)_(8814941 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 87,760,675 | 88,149,417 |
| nssv15121943 | Submitted genomic | NC_000007.12:g.(?_ 87598611)_(8798735 3_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 87,598,611 | 87,987,353 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121943 | GRCh37: NC_000007.13:g.(?_87760675)_(88149417_?)dup, GRCh38: NC_000007.14:g.(?_88131360)_(88520102_?)dup, NCBI36: NC_000007.12:g.(?_87598611)_(87987353_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000053466.6, VCV000059622.1 | 3 |