nsv3921333
- 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:606,598
- Description:GRCh38/hg38 7q11.22(chr7:69665251-70271848)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: 1399 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1399 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 335 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921333 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 69,665,251 | 70,271,848 |
| nsv3921333 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 69,130,237 | 69,736,834 |
| nsv3921333 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 68,768,173 | 69,374,770 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137100 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137349.5, VCV000148274.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137100 | Submitted genomic | NC_000007.14:g.(?_ 69665251)_(7027184 8_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 69,665,251 | 70,271,848 |
| nssv15137100 | Submitted genomic | NC_000007.13:g.(?_ 69130237)_(6973683 4_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 69,130,237 | 69,736,834 |
| nssv15137100 | Submitted genomic | NC_000007.12:g.(?_ 68768173)_(6937477 0_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 68,768,173 | 69,374,770 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137100 | GRCh37: NC_000007.13:g.(?_69130237)_(69736834_?)del, GRCh38: NC_000007.14:g.(?_69665251)_(70271848_?)del, NCBI36: NC_000007.12:g.(?_68768173)_(69374770_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137349.5, VCV000148274.2 | 1 |