A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391183



Internal ID22270289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50766754..50767129hg38UCSC Ensembl
chr17:48844115..48844490hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529365
Supporting Variants
SamplesNA19239
Known GenesLINC00483
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14391183
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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