A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3567862



Internal ID18519457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80256448..80351468hg38UCSC Ensembl
Innerchr17:78230247..78325268hg19UCSC Ensembl
Innerchr17:75844842..75939863hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3895021
hg1995022
hg1895022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066976
Supporting Variants
Samples
Known GenesRNF213
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3567862
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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