A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594788



Internal ID16035511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86318611..86357943hg38UCSC Ensembl
Innerchr4:87239764..87279096hg19UCSC Ensembl
Innerchr4:87458788..87498120hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3839333
hg1939333
hg1839333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153469
Samples1780854327_A
Known GenesMAPK10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594788
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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