A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059234



Internal ID18801765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50560544..50617472hg38UCSC Ensembl
Innerchr22:50998973..51055900hg19UCSC Ensembl
Innerchr22:49345839..49402766hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3856929
hg1956928
hg1856928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3593472
Samples
Known GenesCHKB, CHKB-AS1, CHKB-CPT1B, CPT1B, MAPK8IP2, SYCE3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059234
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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