A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390112



Internal ID22143118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31771728..31771831hg38UCSC Ensembl
chr17:30098747..30098850hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528653
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14390112
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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