A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222928



Internal ID22366848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:168686757..168741250hg38UCSC Ensembl
Outerchr5:168113762..168168255hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38909
hg19909
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276935, nssv14276934, nssv14276937, nssv14276936, nssv14276938, nssv14276931, nssv14276933, nssv14276932
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesSLIT3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222928
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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