A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3190n100



Internal ID20154806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46088437..46713433hg38UCSC Ensembl
chr17:44165803..44790799hg19UCSC Ensembl
chr17:41521621..42145982hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38624997
hg19624997
hg18624362
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060227, nsv1060287
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3190n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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