A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065151



Internal ID19154370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46131308..46275506hg38UCSC Ensembl
Innerchr17:44208674..44352872hg19UCSC Ensembl
Innerchr17:41564451..41708649hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38144199
hg19144199
hg18144199
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3195n100
Supporting Variantsnssv3721000, nssv3720999, nssv3721006, nssv3721002, nssv3721005, nssv3721001, nssv3721003, nssv3721007, nssv3721004
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065151
Frequency
Sample Size11257
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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