A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3747323



Internal ID18698918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76790970..76831345hg38UCSC Ensembl
Innerchr5:76086795..76127170hg19UCSC Ensembl
Innerchr5:76122551..76162926hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3840376
hg1940376
hg1840376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022431
Supporting Variants
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)nssv3747323
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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