nsv3890720
- 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:1,111,572
- Description:GRCh38/hg38 1q42.3(chr1:234802578-235914149)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: 3458 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 3444 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 919 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3890720 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 234,802,578 | 235,914,149 |
| nsv3890720 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 234,938,325 | 236,077,449 |
| nsv3890720 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 233,004,948 | 234,144,072 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135338 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000136290.4, VCV000147069.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135338 | Submitted genomic | NC_000001.11:g.(?_ 234802578)_(235914 149_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 234,802,578 | 235,914,149 |
| nssv15135338 | Submitted genomic | NC_000001.10:g.(?_ 234938325)_(236077 449_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 234,938,325 | 236,077,449 |
| nssv15135338 | Submitted genomic | NC_000001.9:g.(?_2 33004948)_(2341440 72_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 233,004,948 | 234,144,072 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135338 | GRCh37: NC_000001.10:g.(?_234938325)_(236077449_?)dup, GRCh38: NC_000001.11:g.(?_234802578)_(235914149_?)dup, NCBI36: NC_000001.9:g.(?_233004948)_(234144072_?)dup | copy number gain | tested-inconclusive | See cases | Uncertain significance | ClinVar | RCV000136290.4, VCV000147069.2 | 3 |