A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527749



Internal ID15455042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:119864..158815hg38UCSC Ensembl
Innerchr20:100505..139456hg19UCSC Ensembl
Innerchr20:48505..87456hg18UCSC Ensembl
Innerchr20:48505..87456hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3838952
hg1938952
hg1838952
hg1738952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704235
Samples
Known GenesDEFB126, DEFB127
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527749
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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