A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593771



Internal ID16381180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:16225964..16226617hg38UCSC Ensembl
Innerchr4:16227587..16228240hg19UCSC Ensembl
Innerchr4:15836685..15837338hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38654
hg19654
hg18654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8979n54
Supporting Variantsnssv993098
Samples
Known GenesTAPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593771
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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