A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299468



Internal ID22132567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50301101..50301198hg38UCSC Ensembl
chr20:48917638..48917735hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530370
Supporting Variants
SamplesHG00513
Known GenesLOC284751
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299468
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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