nsv3895767
- 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:37,155,437
- Description:GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)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: 94082 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 94013 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 25292 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3895767 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 187,143,981 | 224,299,417 |
| nsv3895767 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 187,113,113 | 224,487,119 |
| nsv3895767 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 185,379,736 | 222,553,742 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146388 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051857.6, VCV000058112.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146388 | Submitted genomic | NC_000001.11:g.(?_ 187143981)_(224299 417_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 187,143,981 | 224,299,417 |
| nssv15146388 | Submitted genomic | NC_000001.10:g.(?_ 187113113)_(224487 119_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 187,113,113 | 224,487,119 |
| nssv15146388 | Submitted genomic | NC_000001.9:g.(?_1 85379736)_(2225537 42_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 185,379,736 | 222,553,742 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146388 | GRCh37: NC_000001.10:g.(?_187113113)_(224487119_?)dup, GRCh38: NC_000001.11:g.(?_187143981)_(224299417_?)dup, NCBI36: NC_000001.9:g.(?_185379736)_(222553742_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051857.6, VCV000058112.2 | 3 |