A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066054



Internal ID19155273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:150721..210406hg38UCSC Ensembl
Innerchr17:514..60197hg19UCSC Ensembl
Innerchr17:514..60197hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3859686
hg1959684
hg1859684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3068n100
Supporting Variantsnssv3560027
Samples
Known GenesDOC2B, LOC100506371
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066054
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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