nsv3911706
- 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:223,111
- Description:GRCh38/hg38 7q35(chr7:146743098-146966208)x1 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: 811 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 811 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 208 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911706 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 146,743,098 | 146,966,208 |
| nsv3911706 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 146,440,190 | 146,663,300 |
| nsv3911706 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 146,071,123 | 146,294,233 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137391 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140644.5, VCV000151960.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137391 | Submitted genomic | NC_000007.14:g.(?_ 146743098)_(146966 208_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 146,743,098 | 146,966,208 |
| nssv15137391 | Submitted genomic | NC_000007.13:g.(?_ 146440190)_(146663 300_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 146,440,190 | 146,663,300 |
| nssv15137391 | Submitted genomic | NC_000007.12:g.(?_ 146071123)_(146294 233_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 146,071,123 | 146,294,233 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137391 | GRCh37: NC_000007.13:g.(?_146440190)_(146663300_?)del, GRCh38: NC_000007.14:g.(?_146743098)_(146966208_?)del, NCBI36: NC_000007.12:g.(?_146071123)_(146294233_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000140644.5, VCV000151960.2 | 1 |