A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594263



Internal ID16381672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:60141597..60252170hg38UCSC Ensembl
Innerchr4:61007315..61117888hg19UCSC Ensembl
Innerchr4:60689910..60800483hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38110574
hg19110574
hg18110574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152923
SamplesHGDP00875
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594263
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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