A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057551



Internal ID18800082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12475571..12575468hg38UCSC Ensembl
Innerchr19:12586385..12686282hg19UCSC Ensembl
Innerchr19:12447385..12547282hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3899898
hg1999898
hg1899898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3437n100
Supporting Variantsnssv3564773, nssv3564772
Samples
Known GenesZNF564, ZNF709
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057551
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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