A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064515



Internal ID18807046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031269..54042022hg38UCSC Ensembl
Innerchr20:52647808..52658561hg19UCSC Ensembl
Innerchr20:52081215..52091968hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3810754
hg1910754
hg1810754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4328n100
Supporting Variantsnssv3586102, nssv3586101, nssv3731375
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)nsv1064515
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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