A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648082



Internal ID18946363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121600538..121695209hg38UCSC Ensembl
Innerchr5:120936233..121030904hg19UCSC Ensembl
Innerchr5:120964132..121058803hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3894672
hg1994672
hg1894672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1034402
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648082
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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