A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514814



Internal ID15813173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:72075688..72078536hg38UCSC Ensembl
Innerchr16:72109587..72112435hg19UCSC Ensembl
Innerchr16:70667088..70669936hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg382849
hg192849
hg182849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2824169, nssv2824181, nssv2824178, nssv2824177, nssv2824145, nssv2824176, nssv2824185, nssv2824146, nssv2824179, nssv2824184, nssv2824150, nssv2824170, nssv2824165, nssv2824160, nssv2824147, nssv2824155, nssv2824163, nssv2824143, nssv2824186, nssv2824183, nssv2824154, nssv2824161, nssv2824151, nssv2824148, nssv2824164, nssv2824162, nssv2824172, nssv2824157, nssv2824187, nssv2824153, nssv2824182, nssv2824142, nssv2824171, nssv2824156, nssv2824158, nssv2824159, nssv2824141, nssv2824144, nssv2824152, nssv2824174, nssv2824167, nssv2824149, nssv2824168, nssv2824180, nssv2824175, nssv2824166, nssv2824173
SamplesNA18497, NA19222, NA19186, NA19249, NA18508, NA18504, NA18870, NA19192, NA18519, NA18860, NA19197, NA19199, NA19172, NA19159, NA19209, NA21387, NA19194, NA19175, NA19161, NA18859, NA19184, NA19103, NA18503, NA19221, NA19142, NA19181, NA18499, NA18856, NA19113, NA19099, NA19183, NA19115, NA19108, NA18517, NA19240, NA21615, NA19182, NA19109, NA19248, NA19223, NA19173, NA19102, NA18873, NA19096, NA19121, NA19224, NA18522
Known GenesHPR
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514814
Frequency
Sample Size2366
Observed Gain47
Observed Loss0
Observed Complex0
Frequencyn/a


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