A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062039



Internal ID18804570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29458872..29493212hg38UCSC Ensembl
Innerchr22:29854861..29889201hg19UCSC Ensembl
Innerchr22:28184861..28219201hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3834341
hg1934341
hg1834341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600794
Samples
Known GenesNEFH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062039
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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