A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14097569



Internal ID21283630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178723845..178727634hg38UCSC Ensembl
Innerchr1:178692980..178696769hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg383790
hg193790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113437
Supporting Variants
Samplessample348
Known GenesRALGPS2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14097569
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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