A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342436



Internal ID22210219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69626119..69626236hg38UCSC Ensembl
chr8:70538354..70538471hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528312
Supporting Variants
SamplesHG00732
Known GenesSULF1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342436
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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