A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059181



Internal ID19148400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:150721..215521hg38UCSC Ensembl
Innerchr17:514..65312hg19UCSC Ensembl
Innerchr17:514..65312hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3864801
hg1964799
hg1864799
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3068n100
Supporting Variantsnssv3560028
Samples
Known GenesDOC2B, LOC100506371, RPH3AL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059181
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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