A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3240n100



Internal ID20154856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46185584..46563264hg38UCSC Ensembl
chr17:44262950..44640630hg19UCSC Ensembl
chr17:41618727..41995946hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38377681
hg19377681
hg18377220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063160, nsv1064816, nsv1063236, nsv1062892, nsv1062723, nsv1059886, nsv1066805, nsv1062002
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3240n100
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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