A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv873979



Internal ID6280990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43947318..44044680hg19UCSC Ensembl
Outerchr2:43943525..44047494hg19UCSC Ensembl
Innerchr2:43800822..43898184hg18UCSC Ensembl
Outerchr2:43797029..43900998hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1499449
SamplesSP50649
Known GenesABCG5, DYNC2LI1, PLEKHH2
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv873979
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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