A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285353



Internal ID22255555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79069527..79096473hg38UCSC Ensembl
chr18:76829527..76856473hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3826947
hg1926947
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226499
Supporting Variants
SamplesNA19238
Known GenesATP9B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285353
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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