A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205230



Internal ID22353951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:54513194..54518022hg38UCSC Ensembl
Outerchr5:53809024..53813852hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384829
hg194829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273591
SamplesHG00513
Known GenesSNX18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205230
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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