nsv3890224
- 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:18,274,002
- Description:GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)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: 42164 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 42160 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 11453 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3890224 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 157,747,246 | 176,021,247 |
| nsv3890224 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 157,717,036 | 175,990,383 |
| nsv3890224 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 155,983,660 | 174,257,006 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133506 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051854.5, VCV000058109.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133506 | Submitted genomic | NC_000001.11:g.(?_ 157747246)_(176021 247_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 157,747,246 | 176,021,247 |
| nssv15133506 | Submitted genomic | NC_000001.10:g.(?_ 157717036)_(175990 383_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 157,717,036 | 175,990,383 |
| nssv15133506 | Submitted genomic | NC_000001.9:g.(?_1 55983660)_(1742570 06_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 155,983,660 | 174,257,006 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133506 | GRCh37: NC_000001.10:g.(?_157717036)_(175990383_?)dup, GRCh38: NC_000001.11:g.(?_157747246)_(176021247_?)dup, NCBI36: NC_000001.9:g.(?_155983660)_(174257006_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051854.5, VCV000058109.1 | 3 |