A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593468



Internal ID16034191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3758366..3767403hg38UCSC Ensembl
Innerchr4:3760093..3769130hg19UCSC Ensembl
Innerchr4:3729891..3738928hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg389038
hg199038
hg189038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv989297
Samples
Known GenesADRA2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593468
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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