A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv670071



Internal ID15060037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45439803..45544464hg38UCSC Ensembl
Innerchr21:46859717..46964378hg19UCSC Ensembl
Innerchr21:45684145..45788806hg18UCSC Ensembl
Innerchr21:45684145..45788806hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38104662
hg19104662
hg18104662
hg17104662
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516407
Supporting Variants
Samples
Known GenesCOL18A1, MIR6815, SLC19A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv670071
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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