A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14343060



Internal ID22258775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70539389..70540255hg38UCSC Ensembl
chr8:71451624..71452490hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38867
hg19867
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527709
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14343060
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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