A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594740



Internal ID16035463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:80202835..80203344hg38UCSC Ensembl
Innerchr4:81123989..81124498hg19UCSC Ensembl
Innerchr4:81343013..81343522hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38510
hg19510
hg18510
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002609, nssv1002608, nssv1002610
Samples
Known GenesPRDM8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594740
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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