nsv3921485
- 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:33,547
- Description:GRCh38/hg38 7q11.22(chr7:69832264-69865810)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: 158 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921485 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 69,832,264 | 69,865,810 |
| nsv3921485 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 69,297,250 | 69,330,796 |
| nsv3921485 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 68,935,186 | 68,968,732 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122019 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054112.5, VCV000060238.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122019 | Submitted genomic | NC_000007.14:g.(?_ 69832264)_(6986581 0_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 69,832,264 | 69,865,810 |
| nssv15122019 | Submitted genomic | NC_000007.13:g.(?_ 69297250)_(6933079 6_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 69,297,250 | 69,330,796 |
| nssv15122019 | Submitted genomic | NC_000007.12:g.(?_ 68935186)_(6896873 2_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 68,935,186 | 68,968,732 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122019 | GRCh37: NC_000007.13:g.(?_69297250)_(69330796_?)del, GRCh38: NC_000007.14:g.(?_69832264)_(69865810_?)del, NCBI36: NC_000007.12:g.(?_68935186)_(68968732_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000054112.5, VCV000060238.1 | 1 |