A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289275



Internal ID22201175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53868486..53868555hg38UCSC Ensembl
chr2:54095623..54095692hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196313
Supporting Variants
SamplesHG00732
Known GenesPSME4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289275
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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