A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3562530



Internal ID18514125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36460442..36524706hg38UCSC Ensembl
Innerchr17:34816256..34880537hg19UCSC Ensembl
Innerchr17:31890369..31954650hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3864265
hg1964282
hg1864282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058224
Supporting Variants
Samples
Known GenesMYO19, ZNHIT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3562530
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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