A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3217n100



Internal ID22789304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46135838..46194634hg38UCSC Ensembl
chr17:44213204..44272000hg19UCSC Ensembl
chr17:41568981..41627777hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3858797
hg1958797
hg1858797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064209, nsv1055401, nsv1057667, nsv1062969, nsv1061059, nsv1055573, nsv1061043, nsv1057877, nsv1060551, nsv1060366, nsv1061224, nsv1065073, nsv1064394, nsv1062066, nsv1067460, nsv1057151, nsv1055590, nsv1063363, nsv1059360
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3217n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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