A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7706n100



Internal ID20159322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114182745..114697870hg38UCSC Ensembl
chr9:116945025..117460150hg19UCSC Ensembl
chr9:115984846..116499971hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38515126
hg19515126
hg18515126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048093, nsv1052877, nsv1039681, nsv1048817, nsv1046311, nsv1051987, nsv1050991, nsv1044374
Samples
Known GenesAKNA, ATP6V1G1, C9orf91, COL27A1, DFNB31, LOC100505478, MIR455, ORM1, ORM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7706n100
Frequency
Sample Size29084
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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