A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060218



Internal ID19149437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42501264..42570410hg38UCSC Ensembl
Innerchr22:42897270..42966416hg19UCSC Ensembl
Innerchr22:41227214..41296360hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3869147
hg1969147
hg1869147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4578n100
Supporting Variantsnssv3737414, nssv3592060, nssv3737415, nssv3592062, nssv3592063, nssv3592061, nssv3737416, nssv3592068, nssv3592064, nssv3592067, nssv3592066, nssv3592065, nssv3592059
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)nsv1060218
Frequency
Sample Size11257
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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