A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056523



Internal ID19145742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35237438..35479750hg38UCSC Ensembl
Innerchr16:34471809..34714121hg19UCSC Ensembl
Innerchr16:34329310..34571622hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38242313
hg19242313
hg18242313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3558708
Samples
Known GenesLOC146481, LOC283914
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056523
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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