A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067336



Internal ID18809867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031269..54051587hg38UCSC Ensembl
Innerchr20:52647808..52668126hg19UCSC Ensembl
Innerchr20:52081215..52101533hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3820319
hg1920319
hg1820319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4329n100
Supporting Variantsnssv3586429, nssv3586426, nssv3586430, nssv3586431, nssv3586425, nssv3731489, nssv3586427, nssv3586428
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)nsv1067336
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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