A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051214



Internal ID18793745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30638297..30743988hg38UCSC Ensembl
Innerchr15:30930500..31036191hg19UCSC Ensembl
Innerchr15:28717792..28823483hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38105692
hg19105692
hg18105692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2532n100
Supporting Variantsnssv3547646
Samples
Known GenesARHGAP11B, LOC100288637
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051214
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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