A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521013



Internal ID15101620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46585199..46590505hg38UCSC Ensembl
Innerchr2:46812338..46817644hg19UCSC Ensembl
Innerchr2:46665842..46671148hg18UCSC Ensembl
Innerchr2:46723989..46729295hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg385307
hg195307
hg185307
hg175307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv681255, nssv679828, nssv693784
Samples
Known GenesPIGF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521013
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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