A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594916



Internal ID16382325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:96183730..96390506hg38UCSC Ensembl
Innerchr4:97104881..97311657hg19UCSC Ensembl
Innerchr4:97323904..97530680hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38206777
hg19206777
hg18206777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153483
SamplesHGDP00908
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594916
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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