A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683690



Internal ID15073656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45439803..45620742hg38UCSC Ensembl
Innerchr21:46859717..47040656hg19UCSC Ensembl
Innerchr21:45684145..45865084hg18UCSC Ensembl
Innerchr21:45684145..45865084hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38180940
hg19180940
hg18180940
hg17180940
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)nssv683690
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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