A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700305



Internal ID15436957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45999098..46004432hg38UCSC Ensembl
Innerchr21:47419012..47424346hg19UCSC Ensembl
Innerchr21:46243440..46248774hg18UCSC Ensembl
Innerchr21:46243440..46248774hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385335
hg195335
hg185335
hg175335
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524388
Supporting Variants
Samples
Known GenesCOL6A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700305
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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