A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058504



Internal ID19147723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46142189..46286792hg38UCSC Ensembl
Innerchr17:44219555..44364158hg19UCSC Ensembl
Innerchr17:41575332..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38144604
hg19144604
hg18144604
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3195n100
Supporting Variantsnssv3556715, nssv3556720, nssv3556718, nssv3556717, nssv3556719, nssv3724096, nssv3724097, nssv3556721, nssv3556722, nssv3556716
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)nsv1058504
Frequency
Sample Size11257
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


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