A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv367n27



Internal ID22767096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46086559..46215654hg38UCSC Ensembl
chr17:44163925..44293020hg19UCSC Ensembl
chr17:41519743..41648797hg18UCSC Ensembl
chr17:41519743..41648797hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38129096
hg19129096
hg18129055
hg17129055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457809, nsv457802, nsv457810, nsv457777, nsv457765, nsv457780, nsv457779, nsv457775, nsv457781, nsv457786, nsv457799, nsv457772, nsv457756, nsv457812, nsv457787, nsv457806, nsv457797, nsv457784, nsv457813, nsv457771, nsv457791, nsv457778, nsv457811, nsv457764, nsv457805, nsv457814, nsv457816, nsv457776, nsv457755, nsv457792, nsv457790, nsv457766, nsv457770, nsv457788, nsv457803, nsv457798, nsv457817, nsv457763, nsv457804, nsv457767, nsv457789, nsv457768, nsv457801, nsv457808, nsv457761, nsv457800, nsv457782, nsv457769, nsv457794, nsv457754, nsv457783, nsv457815, nsv457819, nsv457795, nsv457793, nsv457753, nsv457820
SamplesHGDP00376, HGDP00108, HGDP00524, HGDP01377, HGDP01152, HGDP00116, HGDP01378, HGDP00894, HGDP00805, HGDP00153, HGDP01300, HGDP00881, HGDP00428, HGDP00806, HGDP00639, HGDP00696, HGDP00149, HGDP01303, HGDP00519, HGDP00099, HGDP00080, HGDP00526, HGDP00062, HGDP00898, HGDP00043, HGDP00094, HGDP00134, HGDP00015, HGDP00137, HGDP00697, HGDP00019, HGDP00199, HGDP01073, HGDP00082, HGDP00056, HGDP00351, HGDP00309, HGDP00122, HGDP00058, HGDP00670, HGDP00177, HGDP01079, HGDP01076, HGDP01374, HGDP01369, HGDP00070, HGDP00319, HGDP01305, HGDP00666, HGDP00011, HGDP00594, HGDP00155, HGDP01172, HGDP00527, HGDP00732, HGDP00534, HGDP00444
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv367n27
Frequency
Sample Size1557
Observed Gain57
Observed Loss0
Observed Complex0
Frequencyn/a


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