A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060230



Internal ID19149449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1590758..1613191hg38UCSC Ensembl
Innerchr20:1571404..1593837hg19UCSC Ensembl
Innerchr20:1519404..1541837hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3822434
hg1922434
hg1822434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4236n100
Supporting Variantsnssv3599312, nssv3734842
Samples
Known GenesSIRPB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060230
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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