A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062619



Internal ID18805150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46144772..46199182hg38UCSC Ensembl
Innerchr17:44222138..44276548hg19UCSC Ensembl
Innerchr17:41577915..41632325hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3854411
hg1954411
hg1854411
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3221n100
Supporting Variantsnssv3724126, nssv3556777, nssv3556775, nssv3556776, nssv3556778
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)nsv1062619
Frequency
Sample Size29084
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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