A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14104655



Internal ID21269992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73648677..73706420hg38UCSC Ensembl
Innerchr2:73875804..73933547hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3857744
hg1957744
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113372
Supporting Variants
Samplessample145
Known GenesALMS1P, NAT8B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14104655
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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