A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290835



Internal ID22256356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23577164..23577318hg38UCSC Ensembl
chr18:21157128..21157282hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218678
Supporting Variants
SamplesNA19238
Known GenesNPC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290835
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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