A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595390



Internal ID16382799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128060930..128061604hg38UCSC Ensembl
Innerchr4:128982085..128982759hg19UCSC Ensembl
Innerchr4:129201535..129202209hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38675
hg19675
hg18675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9258n54
Supporting Variantsnssv1006244, nssv1006243
Samples
Known GenesLARP1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595390
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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