A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065685



Internal ID18808216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45877004..46034461hg38UCSC Ensembl
Innerchr17:43954370..44111827hg19UCSC Ensembl
Innerchr17:41310161..41467674hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38157458
hg19157458
hg18157514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3178n100
Supporting Variantsnssv3545126, nssv3545127
Samples
Known GenesKANSL1, MAPT, MAPT-AS1, MAPT-IT1, STH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065685
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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