A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051127



Internal ID18793658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22790740..23107385hg38UCSC Ensembl
Innerchr15:22765683..23082328hg19UCSC Ensembl
Innerchr15:20317047..20633769hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38316646
hg19316646
hg18316723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2404n100
Supporting Variantsnssv3538876
Samples
Known GenesCYFIP1, NIPA1, NIPA2, TUBGCP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051127
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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