A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3590812



Internal ID18542407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41536399..41622240hg38UCSC Ensembl
Innerchr22:41932403..42018244hg19UCSC Ensembl
Innerchr22:40262349..40348190hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3885842
hg1985842
hg1885842
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055166
Supporting Variants
Samples
Known GenesCSDC2, DESI1, PMM1, POLR3H, XRCC6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3590812
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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