A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700346



Internal ID15436998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:33455533..33491977hg38UCSC Ensembl
Innerchr21:34827840..34864284hg19UCSC Ensembl
Innerchr21:33749710..33786154hg18UCSC Ensembl
Innerchr21:33749710..33786154hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3836445
hg1936445
hg1836445
hg1736445
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524420
Supporting Variants
Samples
Known GenesDNAJC28, TMEM50B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700346
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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