A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3560029



Internal ID18858310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:150721..222292hg38UCSC Ensembl
Innerchr17:514..72083hg19UCSC Ensembl
Innerchr17:514..72083hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3871572
hg1971570
hg1871570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1062902
Supporting Variants
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)nssv3560029
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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