A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14085670



Internal ID21274753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119880476..119901890hg38UCSC Ensembl
Innerchr1:120423099..120444513hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3821415
hg1921415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111701
Supporting Variants
Samplessample211
Known GenesADAM30
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14085670
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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