A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3587302



Internal ID18538897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18902533..18929331hg38UCSC Ensembl
Innerchr22:18890046..18916844hg19UCSC Ensembl
Innerchr22:17270046..17296844hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3826799
hg1926799
hg1826799
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1063432
Supporting Variants
Samples
Known GenesDGCR6, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3587302
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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