A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342215



Internal ID22284733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103001939..103002285hg38UCSC Ensembl
chr8:104014167..104014513hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529637
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342215
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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