A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3590540



Internal ID18542135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18888903..19015951hg38UCSC Ensembl
Innerchr22:18876416..19003464hg19UCSC Ensembl
Innerchr22:17256416..17383464hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38127049
hg19127049
hg18127049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055470
Supporting Variants
Samples
Known GenesDGCR5, DGCR6, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3590540
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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