A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3592166



Internal ID18890447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42503422..42561282hg38UCSC Ensembl
Innerchr22:42899428..42957288hg19UCSC Ensembl
Innerchr22:41229372..41287232hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3857861
hg1957861
hg1857861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1059629
Supporting Variants
Samples
Known GenesRRP7A, SERHL, SERHL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3592166
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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