A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv666627



Internal ID15056593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32418460..33104890hg38UCSC Ensembl
Innerchr2:32643528..33329957hg19UCSC Ensembl
Innerchr2:32497032..33183461hg18UCSC Ensembl
Innerchr2:32555179..33241608hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38686431
hg19686430
hg18686430
hg17686430
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)nssv666627
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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