A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2805136



Internal ID21250474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113948974..113948974hg38UCSC Ensembl
chr2:114706551..114706551hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg383951
hg193951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13690981
Samples
Known GenesACTR3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2805136
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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