A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042107



Internal ID18784638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22385562..23121986hg38UCSC Ensembl
Innerchr15:22751082..23487534hg19UCSC Ensembl
Innerchr15:20302446..21038975hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38736425
hg19736453
hg18736530
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2407n100
Supporting Variantsnssv3538870, nssv3715540
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)nsv1042107
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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