A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365984



Internal ID22232229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123422141..123422413hg38UCSC Ensembl
chr12:123906688..123906960hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211523
Supporting Variants
SamplesHG00733
Known GenesRILPL2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365984
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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