A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3203n100



Internal ID20154819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46113306..46203331hg38UCSC Ensembl
chr17:44190672..44280697hg19UCSC Ensembl
chr17:41546454..41636474hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3890026
hg1990026
hg1890021
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058973, nsv1057842, nsv1064968, nsv1059942
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)dgv3203n100
Frequency
Sample Size29084
Observed Gain12
Observed Loss11
Observed Complex0
Frequencyn/a


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