A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056108



Internal ID18798639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82851564..83091923hg38UCSC Ensembl
Innerchr17:80809440..81049725hg19UCSC Ensembl
Innerchr17:78402729..78643088hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38240360
hg19240286
hg18240360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3296n100
Supporting Variantsnssv3567901
Samples
Known GenesB3GNTL1, METRNL, TBCD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056108
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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