A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067450



Internal ID18809981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36460442..36528644hg38UCSC Ensembl
Innerchr17:34816256..34884475hg19UCSC Ensembl
Innerchr17:31890369..31958588hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3868203
hg1968220
hg1868220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3154n100
Supporting Variantsnssv3562531
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)nsv1067450
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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