A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712428



Internal ID18664023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33373420..34701551hg38UCSC Ensembl
Innerchr12:33526355..34854486hg19UCSC Ensembl
Innerchr12:33417622..34745753hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381328132
hg191328132
hg181328132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1043633
Supporting Variants
Samples
Known GenesALG10, SYT10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3712428
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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