A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522790



Internal ID15450083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227376050..227380718hg38UCSC Ensembl
Innerchr2:228240766..228245434hg19UCSC Ensembl
Innerchr2:227949010..227953678hg18UCSC Ensembl
Innerchr2:228066271..228070939hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg384669
hg194669
hg184669
hg174669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698434
Samples
Known GenesTM4SF20
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522790
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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