A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14084654



Internal ID21273869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178682486..178776253hg38UCSC Ensembl
Innerchr1:178651621..178745388hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3893768
hg1993768
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3114506
Supporting Variants
Samplessample197
Known GenesRALGPS2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14084654
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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