A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648103



Internal ID18946384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129300331..129375546hg38UCSC Ensembl
Innerchr5:128636024..128711239hg19UCSC Ensembl
Innerchr5:128663923..128739138hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3875216
hg1975216
hg1875216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1023287
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)nssv3648103
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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