A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293392



Internal ID22324864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99251908..99252124hg38UCSC Ensembl
chr2:99868371..99868587hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526508
Supporting Variants
SamplesNA19240
Known GenesLYG2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14293392
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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