A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521399



Internal ID15102006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44280074..44317775hg38UCSC Ensembl
Innerchr2:44507213..44544914hg19UCSC Ensembl
Innerchr2:44360717..44398418hg18UCSC Ensembl
Innerchr2:44418864..44456565hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3837702
hg1937702
hg1837702
hg1737702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698010
Samples
Known GenesPREPL, SLC3A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521399
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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