A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290429



Internal ID22135035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:20958862..20958957hg38UCSC Ensembl
chr18:18538823..18538918hg19UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218005
Supporting Variants
SamplesHG00513
Known GenesROCK1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290429
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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