A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057427



Internal ID19146646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35232188..35530833hg38UCSC Ensembl
Innerchr16:34466559..34765204hg19UCSC Ensembl
Innerchr16:34324060..34622705hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38298646
hg19298646
hg18298646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3558341, nssv3558338, nssv3722457, nssv3558348, nssv3558346, nssv3558335, nssv3558347, nssv3558339, nssv3558330, nssv3558334, nssv3558345, nssv3558333, nssv3558329, nssv3722459, nssv3558343, nssv3558340, nssv3558342, nssv3558337, nssv3558332, nssv3558331, nssv3722458, nssv3558336, nssv3558344
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)nsv1057427
Frequency
Sample Size11257
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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