A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594030



Internal ID16034753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39767966..39835508hg38UCSC Ensembl
Innerchr4:39769586..39837128hg19UCSC Ensembl
Innerchr4:39445981..39513523hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3867543
hg1967543
hg1867543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv995978
Samples
Known GenesPDS5A, UBE2K
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594030
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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