A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594739



Internal ID16035462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:80202777..80203291hg38UCSC Ensembl
Innerchr4:81123931..81124445hg19UCSC Ensembl
Innerchr4:81342955..81343469hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38515
hg19515
hg18515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002604, nssv1002607, nssv1002605, nssv1002603, nssv1002606
Samples
Known GenesPRDM8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594739
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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