A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523091



Internal ID15103698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57169443..57216292hg38UCSC Ensembl
Innerchr20:55744499..55791348hg19UCSC Ensembl
Innerchr20:55177906..55224755hg18UCSC Ensembl
Innerchr20:55177906..55224755hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3846850
hg1946850
hg1846850
hg1746850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698783
Samples
Known GenesBMP7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523091
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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