nsv3918979
- 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:43,866,803
- Description:GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)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: 131429 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 131183 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 34512 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 |
|---|---|---|---|---|---|---|---|
| nsv3918979 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 115,459,015 | 159,325,817 |
| nsv3918979 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 115,099,069 | 159,118,507 |
| nsv3918979 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 114,886,305 | 158,811,268 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147531 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141413.4, VCV000152912.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147531 | Submitted genomic | NC_000007.14:g.(?_ 115459015)_(159325 817_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 115,459,015 | 159,325,817 |
| nssv15147531 | Submitted genomic | NC_000007.13:g.(?_ 115099069)_(159118 507_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 115,099,069 | 159,118,507 |
| nssv15147531 | Submitted genomic | NC_000007.12:g.(?_ 114886305)_(158811 268_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 114,886,305 | 158,811,268 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147531 | GRCh37: NC_000007.13:g.(?_115099069)_(159118507_?)dup, GRCh38: NC_000007.14:g.(?_115459015)_(159325817_?)dup, NCBI36: NC_000007.12:g.(?_114886305)_(158811268_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141413.4, VCV000152912.1 | 3 |