nsv4674140
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:44,847,974
- Description:GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 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: 120100 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 119942 SVs from 146 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674140 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 204,076,820 | 248,924,793 |
| nsv4674140 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 204,045,948 | 249,218,992 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207620 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001007407.1, VCV000816482.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207620 | Remapped | Good | NC_000001.11:g.(?_ 204076820)_(248924 793_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 204,076,820 | 248,924,793 |
| nssv16207620 | Submitted genomic | NC_000001.10:g.(?_ 204045948)_(249218 992_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 204,045,948 | 249,218,992 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207620 | GRCh37: NC_000001.10:g.(?_204045948)_(249218992_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV001007407.1, VCV000816482.1 | 3 |