A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3593473



Internal ID18545068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50586195..50677098hg38UCSC Ensembl
Innerchr22:51024624..51115526hg19UCSC Ensembl
Innerchr22:49371490..49462392hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3890904
hg1990903
hg1890903
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1067172
Supporting Variants
Samples
Known GenesARSA, MAPK8IP2, SHANK3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3593473
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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