A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116531



Internal ID21299797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73648677..73701248hg38UCSC Ensembl
Innerchr2:73875804..73928375hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3852572
hg1952572
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv627n145
Supporting Variantsnssv14102254, nssv14104805
Samplessample169, sample19
Known GenesALMS1P, NAT8B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116531
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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