nsv3924742
- 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:7,126,102
- Description:GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)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: 18120 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 18123 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 4829 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924742 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 38,177,999 | 45,304,100 |
| nsv3924742 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 38,217,601 | 45,343,699 |
| nsv3924742 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 38,184,126 | 45,310,224 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148950 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142297.4, VCV000154192.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148950 | Submitted genomic | NC_000007.14:g.(?_ 38177999)_(4530410 0_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 38,177,999 | 45,304,100 |
| nssv15148950 | Submitted genomic | NC_000007.13:g.(?_ 38217601)_(4534369 9_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,217,601 | 45,343,699 |
| nssv15148950 | Submitted genomic | NC_000007.12:g.(?_ 38184126)_(4531022 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 38,184,126 | 45,310,224 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148950 | GRCh37: NC_000007.13:g.(?_38217601)_(45343699_?)del, GRCh38: NC_000007.14:g.(?_38177999)_(45304100_?)del, NCBI36: NC_000007.12:g.(?_38184126)_(45310224_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142297.4, VCV000154192.2 | 1 |