A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282436



Internal ID22141447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78244828..78246114hg38UCSC Ensembl
chr17:76240909..76242195hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381287
hg191287
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223876
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282436
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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