A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290914



Internal ID22256371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26593491..26593549hg38UCSC Ensembl
chr18:24173455..24173513hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527920
Supporting Variants
SamplesNA19238
Known GenesKCTD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290914
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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