nsv3898042
- 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:15,835,983
- Description:GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)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: 33685 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 33691 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 8869 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3898042 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 171,039,975 | 186,875,957 |
| nsv3898042 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 171,009,116 | 186,845,089 |
| nsv3898042 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 169,275,740 | 185,111,712 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133873 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134876.6, VCV000145519.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133873 | Submitted genomic | NC_000001.11:g.(?_ 171039975)_(186875 957_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 171,039,975 | 186,875,957 |
| nssv15133873 | Submitted genomic | NC_000001.10:g.(?_ 171009116)_(186845 089_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 171,009,116 | 186,845,089 |
| nssv15133873 | Submitted genomic | NC_000001.9:g.(?_1 69275740)_(1851117 12_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 169,275,740 | 185,111,712 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133873 | GRCh37: NC_000001.10:g.(?_171009116)_(186845089_?)dup, GRCh38: NC_000001.11:g.(?_171039975)_(186875957_?)dup, NCBI36: NC_000001.9:g.(?_169275740)_(185111712_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134876.6, VCV000145519.2 | 3 |