A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058753



Internal ID19147972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35236333..35484929hg38UCSC Ensembl
Innerchr16:34470704..34719300hg19UCSC Ensembl
Innerchr16:34328205..34576801hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38248597
hg19248597
hg18248597
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3558381, nssv3558384, nssv3558380, nssv3558378, nssv3558382, nssv3558376, nssv3558379, nssv3558383, nssv3558377
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)nsv1058753
Frequency
Sample Size11257
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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