A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064456



Internal ID18806987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54028182..54042100hg38UCSC Ensembl
Innerchr20:52644721..52658639hg19UCSC Ensembl
Innerchr20:52078128..52092046hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3813919
hg1913919
hg1813919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4326n100
Supporting Variantsnssv3586088, nssv3586087
Samples
Known GenesBCAS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064456
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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