A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057293



Internal ID19146512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35236333..35511810hg38UCSC Ensembl
Innerchr16:34470704..34746181hg19UCSC Ensembl
Innerchr16:34328205..34603682hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38275478
hg19275478
hg18275478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3558427, nssv3558425, nssv3558429, nssv3722482, nssv3558426, nssv3722481, nssv3558428, nssv3558430
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)nsv1057293
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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