A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595354



Internal ID16382763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:121365925..121368708hg38UCSC Ensembl
Innerchr4:122287080..122289863hg19UCSC Ensembl
Innerchr4:122506530..122509313hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg382784
hg192784
hg182784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9253n54
Supporting Variantsnssv1006132, nssv1006133
Samples
Known GenesQRFPR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595354
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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