A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060500



Internal ID18803031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54028317..54042100hg38UCSC Ensembl
Innerchr20:52644856..52658639hg19UCSC Ensembl
Innerchr20:52078263..52092046hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3813784
hg1913784
hg1813784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4326n100
Supporting Variantsnssv3586097, nssv3586098, nssv3586093, nssv3586094, nssv3731371, nssv3731373, nssv3731372, nssv3586092, nssv3586095, nssv3586096, nssv3731374, nssv3586091
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)nsv1060500
Frequency
Sample Size29084
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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