A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648090



Internal ID18946371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123806051..123823569hg38UCSC Ensembl
Innerchr5:123141745..123159263hg19UCSC Ensembl
Innerchr5:123169644..123187162hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3817519
hg1917519
hg1817519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032923
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)nssv3648090
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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