A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066172



Internal ID18808703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54034615..54046023hg38UCSC Ensembl
Innerchr20:52651154..52662562hg19UCSC Ensembl
Innerchr20:52084561..52095969hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3811409
hg1911409
hg1811409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4330n100
Supporting Variantsnssv3587550, nssv3587545, nssv3587551, nssv3587552, nssv3587547, nssv3731490, nssv3587546, nssv3587549, nssv3587544, nssv3586434, nssv3587543, nssv3587554, nssv3586433, nssv3587548, nssv3587553, nssv3586435, nssv3731491
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)nsv1066172
Frequency
Sample Size29084
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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