A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060864



Internal ID18803395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16438080..16807330hg38UCSC Ensembl
Innerchr22:16918820..17288220hg19UCSC Ensembl
Innerchr22:15298820..15668220hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38369251
hg19369401
hg18369401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4459n100
Supporting Variantsnssv3589311, nssv3589312, nssv3589313
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060864
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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