A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595387



Internal ID16382796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:127489761..127602809hg38UCSC Ensembl
Innerchr4:128410916..128523964hg19UCSC Ensembl
Innerchr4:128630366..128743414hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38113049
hg19113049
hg18113049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1006240
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595387
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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