A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv627n145



Internal ID22813643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73648677..73706420hg38UCSC Ensembl
chr2:73875804..73933547hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3857744
hg1957744
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3113372, nsv3111302, nsv3116531
Samplessample145, sample42, sample169, sample19, sample343, sample371
Known GenesALMS1P, NAT8B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv627n145
Frequency
Sample Size467
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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