A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2805830



Internal ID21251168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174087492..174087492hg38UCSC Ensembl
chr2:174952220..174952220hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382426
hg192426
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13682457, nssv13691220
Samples
Known GenesOLA1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2805830
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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