A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594011



Internal ID16381420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:38915293..38972838hg38UCSC Ensembl
Innerchr4:38916914..38974458hg19UCSC Ensembl
Innerchr4:38593309..38650853hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3857546
hg1957545
hg1857545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv995930
Samples
Known GenesFAM114A1, TMEM156
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594011
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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