A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301019



Internal ID22118577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58520198..58520339hg38UCSC Ensembl
chr20:57095254..57095395hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233547
Supporting Variants
SamplesHG00512
Known GenesAPCDD1L-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301019
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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