A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3210n100



Internal ID20154826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46127008..46199182hg38UCSC Ensembl
chr17:44204374..44276548hg19UCSC Ensembl
chr17:41560151..41632325hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3872175
hg1972175
hg1872175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064823, nsv1062440, nsv1058340, nsv1055589, nsv1061197, nsv1058353, nsv1059446, nsv1064440, nsv1056155, nsv1057104, nsv1057330
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)dgv3210n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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