A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514845



Internal ID15813204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41375650..41380442hg38UCSC Ensembl
Innerchr17:39531902..39536694hg19UCSC Ensembl
Innerchr17:36785428..36790220hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384793
hg194793
hg184793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2830332, nssv2830312, nssv2830333, nssv2832460, nssv2832448, nssv2830330, nssv2832467, nssv2832449, nssv2832479, nssv2830306, nssv2832473, nssv2830313, nssv2832446, nssv2830317, nssv2830315, nssv2830310, nssv2832480, nssv2832450, nssv2830322, nssv2830314, nssv2832470, nssv2832472, nssv2832462, nssv2832469, nssv2830318, nssv2832477, nssv2832461, nssv2830328, nssv2832482, nssv2830321, nssv2832447, nssv2832456, nssv2830323, nssv2832464, nssv2830316, nssv2832474, nssv2832466, nssv2830329, nssv2832484, nssv2832475, nssv2832454, nssv2832481, nssv2832455, nssv2832468, nssv2832471, nssv2832452, nssv2832483, nssv2832478, nssv2830319, nssv2832463, nssv2832457, nssv2832485, nssv2832465, nssv2832445, nssv2832444, nssv2830311, nssv2830307, nssv2832453, nssv2830331, nssv2830326, nssv2830308, nssv2832459, nssv2832451, nssv2830327, nssv2830309, nssv2830325, nssv2830324, nssv2832476, nssv2832458, nssv2830320
SamplesNA18497, NA19222, NA11830, NA21636, NA19204, NA18508, NA18935, NA18917, NA21648, NA18959, NA19098, NA07357, NA21359, NA18489, NA12802, NA18860, NA19131, NA18916, NA11992, NA12283, NA07019, NA19180, NA11994, NA19239, NA19209, NA21634, NA18908, NA19200, NA18605, NA07022, NA10863, NA19152, NA18933, NA18859, NA19184, NA19205, NA18485, NA19202, NA19114, NA19142, NA11893, NA18499, NA18930, NA19113, NA19154, NA12264, NA19257, NA12144, NA19095, NA18974, NA19094, NA18978, NA19115, NA19108, NA19140, NA19240, NA19100, NA21361, NA07055, NA19182, NA19178, NA19211, NA19093, NA10860, NA18500, NA18609, NA18506, NA18488, NA18522, NA12154
Known GenesKRT34
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514845
Frequency
Sample Size2366
Observed Gain70
Observed Loss0
Observed Complex0
Frequencyn/a


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