A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594012



Internal ID16381421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:38966387..39011010hg38UCSC Ensembl
Innerchr4:38968008..39012630hg19UCSC Ensembl
Innerchr4:38644403..38689025hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3844624
hg1944623
hg1844623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153459
Samples1798860192_A
Known GenesTMEM156
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594012
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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