A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14382122



Internal ID22267554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56933769..56941137hg38UCSC Ensembl
chr17:55011130..55018498hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg387369
hg197369
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218706
Supporting Variants
SamplesNA19238
Known GenesCOIL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14382122
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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