A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057125



Internal ID19146344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55750518..55795666hg38UCSC Ensembl
Innerchr16:55784430..55829578hg19UCSC Ensembl
Innerchr16:54341931..54387079hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3845149
hg1945149
hg1845149
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2986n100
Supporting Variantsnssv3559299, nssv3559297, nssv3559298
Samples
Known GenesCES1P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057125
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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