A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5621n54



Internal ID22773516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46092442..46215654hg38UCSC Ensembl
chr17:44169808..44293020hg19UCSC Ensembl
chr17:41525626..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 Variants
Supporting Variantsnsv575163, nsv575168
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)dgv5621n54
Frequency
Sample Size17421
Observed Gain67
Observed Loss4
Observed Complex0
Frequencyn/a


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