A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040546



Internal ID18783077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22455908..23121986hg38UCSC Ensembl
Innerchr15:22751082..23417273hg19UCSC Ensembl
Innerchr15:20302446..20968714hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38666079
hg19666192
hg18666269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3538868
Samples
Known GenesCYFIP1, GOLGA8I, HERC2P2, HERC2P7, LOC283683, 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)nsv1040546
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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