A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7665n100



Internal ID20159281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68783797..69356369hg38UCSC Ensembl
chr9:71398713..71971285hg19UCSC Ensembl
chr9:70588533..71161105hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38572573
hg19572573
hg18572573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1051723, nsv1047540, nsv1035823
Samples
Known GenesBANCR, FAM189A2, FXN, PIP5K1B, PRKACG, TJP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7665n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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