A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648110



Internal ID18599705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130705748..131180675hg38UCSC Ensembl
Innerchr5:130041441..130516368hg19UCSC Ensembl
Innerchr5:130069340..130544267hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38474928
hg19474928
hg18474928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029435
Supporting Variants
Samples
Known GenesHINT1, LYRM7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648110
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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