A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519877



Internal ID15100484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42751296..42793774hg38UCSC Ensembl
Innerchr2:42978436..43020914hg19UCSC Ensembl
Innerchr2:42831940..42874418hg18UCSC Ensembl
Innerchr2:42890087..42932565hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3842479
hg1942479
hg1842479
hg1742479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700823, nssv701229, nssv691333, nssv659270
Samples
Known GenesHAAO, MTA3, OXER1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519877
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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