A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593772



Internal ID16381181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:16225971..16226617hg38UCSC Ensembl
Innerchr4:16227594..16228240hg19UCSC Ensembl
Innerchr4:15836692..15837338hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38647
hg19647
hg18647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8979n54
Supporting Variantsnssv993099
Samples
Known GenesTAPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593772
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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