A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv676871



Internal ID15066837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45414899..45538385hg38UCSC Ensembl
Innerchr21:46834814..46958299hg19UCSC Ensembl
Innerchr21:45659242..45782727hg18UCSC Ensembl
Innerchr21:45659242..45782727hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38123487
hg19123486
hg18123486
hg17123486
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516407
Supporting Variants
Samples
Known GenesCOL18A1, COL18A1-AS1, MIR6815, SLC19A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv676871
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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