A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283312



Internal ID22120239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32769851..32773000hg38UCSC Ensembl
chr18:30349814..30352963hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg383150
hg193150
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224547
Supporting Variants
SamplesHG00512
Known GenesKLHL14
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283312
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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