A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518385



Internal ID15098992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76597821..76661078hg38UCSC Ensembl
Innerchr17:74593903..74657160hg19UCSC Ensembl
Innerchr17:72105498..72168755hg18UCSC Ensembl
Innerchr17:72105498..72168755hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3863258
hg1963258
hg1863258
hg1763258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695816
Samples
Known GenesST6GALNAC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518385
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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