A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056630



Internal ID18799161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42501264..42581172hg38UCSC Ensembl
Innerchr22:42897270..42977178hg19UCSC Ensembl
Innerchr22:41227214..41307122hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3879909
hg1979909
hg1879909
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4578n100
Supporting Variantsnssv3737420, nssv3737419
Samples
Known GenesRRP7A, RRP7B, 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)nsv1056630
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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