A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14097366



Internal ID21269604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64895117..64898693hg38UCSC Ensembl
Innerchr1:65360800..65364376hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383577
hg193577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111534
Supporting Variants
Samplessample140
Known GenesJAK1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14097366
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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