A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600132



Internal ID16040855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:157394209..157471891hg38UCSC Ensembl
Innerchr5:156821217..156898899hg19UCSC Ensembl
Innerchr5:156753795..156831477hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3877683
hg1977683
hg1877683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1044496
Samples
Known GenesCYFIP2, NIPAL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600132
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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