A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060317



Internal ID18802848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36601140..36646211hg38UCSC Ensembl
Innerchr17:34957569..35002667hg19UCSC Ensembl
Innerchr17:32031682..32076780hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3845072
hg1945099
hg1845099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3156n100
Supporting Variantsnssv3562538
Samples
Known GenesMRM1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060317
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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