A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516279



Internal ID15443572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46079585..46145351hg38UCSC Ensembl
Innerchr22:46475465..46541227hg19UCSC Ensembl
Innerchr22:44854129..44919891hg18UCSC Ensembl
Innerchr22:44795984..44861746hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3865767
hg1965763
hg1865763
hg1765763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691458, nssv681337, nssv689650, nssv667293, nssv678601, nssv670073, nssv672532, nssv683171, nssv674781, nssv682238, nssv654703
Samples
Known GenesMIR3619, MIR4763, MIRLET7A3, MIRLET7B, MIRLET7BHG
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516279
Frequency
Sample Size2026
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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