A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111302



Internal ID21294568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73648677..73704746hg38UCSC Ensembl
Innerchr2:73875804..73931873hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3856070
hg1956070
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv627n145
Supporting Variantsnssv14106791, nssv14106273, nssv14102410
Samplessample42, sample343, sample371
Known GenesALMS1P, NAT8B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111302
Frequency
Sample Size467
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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