A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282465



Internal ID22156009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78474901..78474975hg38UCSC Ensembl
chr17:76470983..76471057hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528337
Supporting Variants
SamplesHG00514
Known GenesDNAH17
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282465
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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