A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155929



Internal ID22086434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240588423..240605435hg38UCSC Ensembl
Outerchr2:240584791..240616574hg38UCSC Ensembl
Innerchr2:241527840..241544852hg19UCSC Ensembl
Outerchr2:241524208..241555991hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3831784
hg1931784
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4016198
Samples
Known GenesCAPN10, CAPN10-AS1, GPR35
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155929
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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