A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14434013



Internal ID22176979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64018827..64041740hg38UCSC Ensembl
chr20:62650180..62673093hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3822914
hg1922914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223956
Supporting Variants
SamplesHG00514
Known GenesLINC00176, PRPF6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14434013
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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