nsv3917821
- 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:189,830
- Description:GRCh38/hg38 7q11.22(chr7:69865751-70055580)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: 551 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 551 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917821 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 69,865,751 | 70,055,580 |
| nsv3917821 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 69,330,737 | 69,520,566 |
| nsv3917821 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 68,968,673 | 69,158,502 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133370 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134146.5, VCV000144722.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133370 | Submitted genomic | NC_000007.14:g.(?_ 69865751)_(7005558 0_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 69,865,751 | 70,055,580 |
| nssv15133370 | Submitted genomic | NC_000007.13:g.(?_ 69330737)_(6952056 6_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 69,330,737 | 69,520,566 |
| nssv15133370 | Submitted genomic | NC_000007.12:g.(?_ 68968673)_(6915850 2_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 68,968,673 | 69,158,502 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133370 | GRCh37: NC_000007.13:g.(?_69330737)_(69520566_?)del, GRCh38: NC_000007.14:g.(?_69865751)_(70055580_?)del, NCBI36: NC_000007.12:g.(?_68968673)_(69158502_?)del | copy number loss | paternal | See cases | Pathogenic | ClinVar | RCV000134146.5, VCV000144722.2 | 1 |