A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3567721



Internal ID18519316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60647092..60876233hg38UCSC Ensembl
Innerchr17:58724453..58953594hg19UCSC Ensembl
Innerchr17:56079235..56308376hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38229142
hg19229142
hg18229142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061134
Supporting Variants
Samples
Known GenesBCAS3, PPM1D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3567721
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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