A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230138



Internal ID22371763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:174725097..174765039hg38UCSC Ensembl
Outerchr5:174152100..174192042hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382842
hg192842
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275277, nssv14275278
SamplesNA19239, NA19240
Known GenesMIR4634, MSX2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230138
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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