A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712547



Internal ID19010828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:68899550..68990690hg38UCSC Ensembl
Innerchr12:69293330..69384470hg19UCSC Ensembl
Innerchr12:67579597..67670737hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3891141
hg1991141
hg1891141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1042799
Supporting Variants
Samples
Known GenesCPM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3712547
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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