A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022392



Internal ID18764926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31203034..31246222hg38UCSC Ensembl
Innerchr5:31203141..31246329hg19UCSC Ensembl
Innerchr5:31238898..31282086hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3843189
hg1943189
hg1843189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3745868
Samples
Known GenesCDH6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022392
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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