A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1433n100



Internal ID20153049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33357180..34304261hg38UCSC Ensembl
chr12:33510115..34457196hg19UCSC Ensembl
chr12:33401382..34348463hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38947082
hg19947082
hg18947082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1037735, nsv1047430, nsv1040037
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)dgv1433n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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