A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593823



Internal ID16381232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:23349489..23442822hg38UCSC Ensembl
Innerchr4:23351112..23444445hg19UCSC Ensembl
Innerchr4:22960210..23053543hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3893334
hg1993334
hg1893334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv994404
Samples
Known GenesMIR548AJ2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593823
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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