A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010622



Internal ID19099839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:158396409..158444291hg38UCSC Ensembl
Innerchr2:159252921..159300803hg19UCSC Ensembl
Innerchr2:158961167..159009049hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3847883
hg1947883
hg1847883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582979
Samples
Known GenesCCDC148
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010622
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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