A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596122



Internal ID16036845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:168609188..168630391hg38UCSC Ensembl
Innerchr4:169530339..169551542hg19UCSC Ensembl
Innerchr4:169766914..169788117hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3821204
hg1921204
hg1821204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152850
SamplesHGDP00812
Known GenesPALLD
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596122
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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