A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055944



Internal ID19145163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42501264..42561803hg38UCSC Ensembl
Innerchr22:42897270..42957809hg19UCSC Ensembl
Innerchr22:41227214..41287753hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3860540
hg1960540
hg1860540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4577n100
Supporting Variantsnssv3592058, nssv3737411, nssv3592056, nssv3592057, nssv3737412, nssv3737413
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)nsv1055944
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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