A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059873



Internal ID18802404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16438080..16819430hg38UCSC Ensembl
Innerchr22:16918820..17300320hg19UCSC Ensembl
Innerchr22:15298820..15680320hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38381351
hg19381501
hg18381501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4459n100
Supporting Variantsnssv3589315, nssv3589314
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)nsv1059873
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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