A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595521



Internal ID16036244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:137037830..137931818hg38UCSC Ensembl
Innerchr4:137958984..138852972hg19UCSC Ensembl
Innerchr4:138178434..139072422hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38893989
hg19893989
hg18893989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1007635
Samples
Known GenesPCDH18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595521
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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