A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3180n100



Internal ID22789267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46068223..46234597hg38UCSC Ensembl
chr17:44145589..44311963hg19UCSC Ensembl
chr17:41501411..41667740hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38166375
hg19166375
hg18166330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064867, nsv1060778, nsv1065444, nsv1060272, nsv1061276, nsv1063739, nsv1066934, nsv1057078, nsv1063984, nsv1066897, nsv1063916, nsv1057234, nsv1061169, nsv1065060
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)dgv3180n100
Frequency
Sample Size11257
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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