A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378883



Internal ID22140590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11658185..11664007hg38UCSC Ensembl
chr17:11561502..11567324hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg385823
hg195823
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218050
Supporting Variants
SamplesHG00513
Known GenesDNAH9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378883
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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