A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064832



Internal ID19154051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42496327..42554473hg38UCSC Ensembl
Innerchr22:42892333..42950479hg19UCSC Ensembl
Innerchr22:41222277..41280423hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3858147
hg1958147
hg1858147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4577n100
Supporting Variantsnssv3590843, nssv3737361, nssv3590841, nssv3737360, nssv3590844, nssv3590845, nssv3590842
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)nsv1064832
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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