A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059343



Internal ID18801874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031269..54046023hg38UCSC Ensembl
Innerchr20:52647808..52662562hg19UCSC Ensembl
Innerchr20:52081215..52095969hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3814755
hg1914755
hg1814755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4327n100
Supporting Variantsnssv3586388, nssv3586412, nssv3586409, nssv3586390, nssv3586399, nssv3586413, nssv3586384, nssv3586403, nssv3586385, nssv3586419, nssv3586405, nssv3731478, nssv3586411, nssv3731482, nssv3586382, nssv3586392, nssv3586414, nssv3586418, nssv3586398, nssv3731481, nssv3586387, nssv3731483, nssv3586416, nssv3586407, nssv3586404, nssv3731484, nssv3586394, nssv3731486, nssv3586417, nssv3586397, nssv3731480, nssv3731487, nssv3586391, nssv3731477, nssv3586389, nssv3586400, nssv3586402, nssv3586383, nssv3586408, nssv3586395, nssv3731479, nssv3586406, nssv3586410, nssv3586386, nssv3731485, nssv3586396, nssv3731476, nssv3586415, nssv3586393, nssv3586401
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)nsv1059343
Frequency
Sample Size29084
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer