A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521780



Internal ID15449073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86747195..86767596hg38UCSC Ensembl
Innerchr2:86974318..86994719hg19UCSC Ensembl
Innerchr2:86827829..86848230hg18UCSC Ensembl
Innerchr2:86885976..86906377hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3820402
hg1920402
hg1820402
hg1720402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694548
Samples
Known GenesRMND5A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521780
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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