A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287233



Internal ID22157915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76288817..76288990hg38UCSC Ensembl
chr18:74000772..74000945hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212660
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287233
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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