A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059193



Internal ID19148412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35237438..35533904hg38UCSC Ensembl
Innerchr16:34471809..34768275hg19UCSC Ensembl
Innerchr16:34329310..34625776hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38296467
hg19296467
hg18296467
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3558822, nssv3558823, nssv3558820, nssv3558821
Samples
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059193
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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