A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702555



Internal ID15092521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44248288..44250887hg38UCSC Ensembl
Innerchr21:45668171..45670770hg19UCSC Ensembl
Innerchr21:44492599..44495198hg18UCSC Ensembl
Innerchr21:44492599..44495198hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382600
hg192600
hg182600
hg172600
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526276
Supporting Variants
Samples
Known GenesDNMT3L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702555
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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