A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3235n100



Internal ID20154851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46171482..46218456hg38UCSC Ensembl
chr17:44248848..44295822hg19UCSC Ensembl
chr17:41604625..41651599hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3846975
hg1946975
hg1846975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064637, nsv1055326, nsv1062891
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)dgv3235n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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