A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3587343



Internal ID18538938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19513309..19553630hg38UCSC Ensembl
Innerchr22:19500832..19541153hg19UCSC Ensembl
Innerchr22:17880832..17921153hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3840322
hg1940322
hg1840322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055146
Supporting Variants
Samples
Known GenesCDC45, CLDN5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3587343
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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