nsv3870947
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:17,067
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 263 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 263 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3870947 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 5,991,963 | 6,009,029 |
| nsv3870947 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 6,031,594 | 6,048,660 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15143907 | deletion | Multiple | Multiple | Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer | Pathogenic | ClinVar | RCV000707926.2, VCV000583640.2 |
| nssv15770048 | duplication | Multiple | Multiple | Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer | Uncertain significance | ClinVar | RCV000794127.1, VCV000640985.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15143907 | Submitted genomic | NC_000007.14:g.(?_ 5991963)_(6009029_ ?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 5,991,963 | 6,009,029 |
| nssv15770048 | Submitted genomic | NC_000007.14:g.(?_ 5991963)_(6009029_ ?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 5,991,963 | 6,009,029 |
| nssv15143907 | Submitted genomic | NC_000007.13:g.(?_ 6031594)_(6048660_ ?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,031,594 | 6,048,660 |
| nssv15770048 | Submitted genomic | NC_000007.13:g.(?_ 6031594)_(6048660_ ?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,031,594 | 6,048,660 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15143907 | GRCh37: NC_000007.13:g.(?_6031594)_(6048660_?)del, GRCh38: NC_000007.14:g.(?_5991963)_(6009029_?)del | deletion | germline | Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer | Pathogenic | ClinVar | RCV000707926.2, VCV000583640.2 |
| nssv15770048 | GRCh37: NC_000007.13:g.(?_6031594)_(6048660_?)dup, GRCh38: NC_000007.14:g.(?_5991963)_(6009029_?)dup | duplication | germline | Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer | Uncertain significance | ClinVar | RCV000794127.1, VCV000640985.1 |