A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053792



Internal ID18796323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22413906..23121986hg38UCSC Ensembl
Innerchr15:22751082..23459190hg19UCSC Ensembl
Innerchr15:20302446..21010631hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38708081
hg19708109
hg18708186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2408n100
Supporting Variantsnssv3538869
Samples
Known GenesCYFIP1, GOLGA8EP, 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)nsv1053792
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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