A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060059



Internal ID18802590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46136788hg38UCSC Ensembl
Innerchr17:44165803..44214154hg19UCSC Ensembl
Innerchr17:41521621..41569931hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3848352
hg1948352
hg1848311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3183n100
Supporting Variantsnssv3719562, nssv3546160, nssv3719561, nssv3546159
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060059
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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