A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301024



Internal ID22203311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58599024..58599112hg38UCSC Ensembl
chr20:57174080..57174168hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216167
Supporting Variants
SamplesHG00732
Known GenesAPCDD1L-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301024
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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