A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693229



Internal ID15083195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32316369..33101417hg38UCSC Ensembl
Innerchr2:32541438..33326484hg19UCSC Ensembl
Innerchr2:32394942..33179988hg18UCSC Ensembl
Innerchr2:32453089..33238135hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38785049
hg19785047
hg18785047
hg17785047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516173
Supporting Variants
Samples
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693229
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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