A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526947



Internal ID15454240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126945680..126964323hg38UCSC Ensembl
Innerchr3:126664523..126683166hg19UCSC Ensembl
Innerchr3:128147213..128165856hg18UCSC Ensembl
Innerchr3:128147221..128165864hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3818644
hg1918644
hg1818644
hg1718644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703317
Samples
Known GenesCHCHD6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526947
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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