A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1432n100



Internal ID20153048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33354046..34701551hg38UCSC Ensembl
chr12:33506981..34854486hg19UCSC Ensembl
chr12:33398248..34745753hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381347506
hg191347506
hg181347506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035922, nsv1049591, nsv1055036, nsv1037831, nsv1043633, nsv1040812
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)dgv1432n100
Frequency
Sample Size29084
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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