A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061782



Internal ID18804313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46169631hg38UCSC Ensembl
Innerchr17:44165803..44246997hg19UCSC Ensembl
Innerchr17:41521621..41602774hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3881195
hg1981195
hg1881154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3186n100
Supporting Variantsnssv3546199
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)nsv1061782
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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