A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060235



Internal ID19149454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45897542..45940630hg38UCSC Ensembl
Innerchr21:47317456..47360544hg19UCSC Ensembl
Innerchr21:46141884..46184972hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3843089
hg1943089
hg1843089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4440n100
Supporting Variantsnssv3600303
Samples
Known GenesPCBP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060235
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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