A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv568226



Internal ID16008949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22850232..23121326hg38UCSC Ensembl
Innerchr15:22751742..23022836hg19UCSC Ensembl
Innerchr15:20303106..20574277hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38271095
hg19271095
hg18271172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv838338
Samples
Known GenesCYFIP1, NIPA2, TUBGCP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv568226
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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