A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv568240



Internal ID16008963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22708781..23107385hg38UCSC Ensembl
Innerchr15:22765683..23164315hg19UCSC Ensembl
Innerchr15:20317047..20715756hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38398605
hg19398633
hg18398710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4320n54
Supporting Variantsnssv838363
Samples
Known GenesCYFIP1, LOC283683, NIPA1, NIPA2, TUBGCP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv568240
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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