A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018194



Internal ID18760727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76795126..76833416hg38UCSC Ensembl
Innerchr5:76090951..76129241hg19UCSC Ensembl
Innerchr5:76126707..76164997hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3838291
hg1938291
hg1838291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5703n100
Supporting Variantsnssv3639043, nssv3639042
Samples
Known GenesF2RL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018194
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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