A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575163



Internal ID16015886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46092442..46215654hg38UCSC Ensembl
Innerchr17:44169808..44293020hg19UCSC Ensembl
Innerchr17:41525626..41648797hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38123213
hg19123213
hg18123172
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5621n54
Supporting Variantsnssv872366, nssv1149412, nssv1149389, nssv872371, nssv872379, nssv1149422, nssv872367, nssv1149385, nssv1149391, nssv1149419, nssv1149415, nssv1149411, nssv1149417, nssv872376, nssv872380, nssv872370, nssv872368, nssv1149395, nssv872373, nssv872364, nssv872377, nssv1149403, nssv1149404, nssv1149398, nssv1149401, nssv1149409, nssv1149425, nssv1149390, nssv1149414, nssv1149399, nssv1149424, nssv872375, nssv1149408, nssv1149388, nssv1149418, nssv1149416, nssv1149393, nssv1149423, nssv1149400, nssv1149421, nssv1149410, nssv1149405, nssv872381, nssv1149402, nssv872372, nssv872365, nssv1149397, nssv1149428, nssv872374, nssv872369, nssv1149406, nssv1149392, nssv1149413, nssv1149387, nssv1149426, nssv1149394, nssv1149384, nssv1149386, nssv1149396, nssv1149420, nssv872378, nssv1149407, nssv1149427
SamplesHGDP00376, HGDP00524, HGDP01377, HGDP01152, HGDP01295, HGDP01378, HGDP00894, HGDP00805, HGDP00153, HGDP01300, HGDP00881, HGDP00428, HGDP00806, HGDP00639, HGDP00696, HGDP00149, HGDP01303, HGDP00519, HGDP00080, HGDP00526, HGDP00062, HGDP00898, HGDP00094, HGDP00134, HGDP00015, HGDP00137, HGDP00019, HGDP01073, HGDP00056, HGDP00351, HGDP00309, HGDP00122, HGDP00670, HGDP00177, HGDP01079, HGDP01374, HGDP00319, HGDP01305, HGDP00666, HGDP00594, HGDP00155, HGDP00527, HGDP00732, HGDP00534, HGDP00444
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575163
Frequency
Sample Size17421
Observed Gain62
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer