A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058704



Internal ID18801235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45877004..46032403hg38UCSC Ensembl
Innerchr17:43954370..44109769hg19UCSC Ensembl
Innerchr17:41310161..41465616hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38155400
hg19155400
hg18155456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3178n100
Supporting Variantsnssv3545125
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)nsv1058704
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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