nsv3906070
- 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:717,213
- Description:GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)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: 2001 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1931 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 446 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3906070 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 154,575,689 | 155,292,901 |
| nsv3906070 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 154,548,165 | 155,262,692 |
| nsv3906070 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 152,814,789 | 153,529,316 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146496 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053912.4, VCV000060040.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146496 | Submitted genomic | NC_000001.11:g.(?_ 154575689)_(155292 901_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 154,575,689 | 155,292,901 |
| nssv15146496 | Submitted genomic | NC_000001.10:g.(?_ 154548165)_(155262 692_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 154,548,165 | 155,262,692 |
| nssv15146496 | Submitted genomic | NC_000001.9:g.(?_1 52814789)_(1535293 16_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 152,814,789 | 153,529,316 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146496 | GRCh37: NC_000001.10:g.(?_154548165)_(155262692_?)del, GRCh38: NC_000001.11:g.(?_154575689)_(155292901_?)del, NCBI36: NC_000001.9:g.(?_152814789)_(153529316_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053912.4, VCV000060040.1 | 1 |