A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3222n100



Internal ID22789309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46137522..46234597hg38UCSC Ensembl
chr17:44214888..44311963hg19UCSC Ensembl
chr17:41570665..41667740hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3897076
hg1997076
hg1897076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055402, nsv1059999
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)dgv3222n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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