A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047130



Internal ID19136349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:19933041..19954498hg38UCSC Ensembl
Innerchr16:19944363..19965820hg19UCSC Ensembl
Innerchr16:19851864..19873321hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3821458
hg1921458
hg1821458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2789n100
Supporting Variantsnssv3542858, nssv3542857
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047130
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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