A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519581



Internal ID15100188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237785904..237861249hg38UCSC Ensembl
Innerchr2:238694547..238769892hg19UCSC Ensembl
Innerchr2:238359286..238434631hg18UCSC Ensembl
Innerchr2:238476547..238551892hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3875346
hg1975346
hg1875346
hg1775346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696933
Samples
Known GenesRAMP1, RBM44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519581
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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