A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064061



Internal ID18806592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22175461..22364467hg38UCSC Ensembl
Innerchr22:22529847..22718827hg19UCSC Ensembl
Innerchr22:20859847..21048827hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38189007
hg19188981
hg18188981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4504n100
Supporting Variantsnssv3588896, nssv3588897
Samples
Known GenesBMS1P20, VPREB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064061
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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