A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3642131



Internal ID18593726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:53371315..54359794hg38UCSC Ensembl
Innerchr5:52667145..53655624hg19UCSC Ensembl
Innerchr5:52702902..53691381hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38988480
hg19988480
hg18988480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032632
Supporting Variants
Samples
Known GenesARL15, FST, MIR581, NDUFS4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3642131
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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