A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2407n100



Internal ID20154023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22385562..23199681hg38UCSC Ensembl
chr15:22673387..23487534hg19UCSC Ensembl
chr15:20224751..21038975hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38814120
hg19814148
hg18814225
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1045129, nsv1055096, nsv1042107, nsv1038405, nsv1051299, nsv1047146
Samples
Known GenesCYFIP1, GOLGA6L1, GOLGA8DP, GOLGA8EP, GOLGA8I, HERC2P2, HERC2P7, LOC283683, MIR4509-1, MIR4509-2, MIR4509-3, NIPA1, NIPA2, TUBGCP5, WHAMMP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2407n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss15
Observed Complex0
Frequencyn/a


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