A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686438



Internal ID15076404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18466680..18471706hg38UCSC Ensembl
Innerchr10:18755609..18760635hg19UCSC Ensembl
Innerchr10:18795615..18800641hg18UCSC Ensembl
Innerchr10:18795615..18800641hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg385027
hg195027
hg185027
hg175027
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517404
Supporting Variants
Samples
Known GenesCACNB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv686438
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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