A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058338



Internal ID18800869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38423344..38450414hg38UCSC Ensembl
Innerchr22:38819349..38846420hg19UCSC Ensembl
Innerchr22:37149295..37176366hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3827071
hg1927072
hg1827072
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600879
Samples
Known GenesKCNJ4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058338
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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