A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230077



Internal ID22371720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:426160..600208hg38UCSC Ensembl
OuterchrX:386895..560943hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg386099
hg196099
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9875n152
Supporting Variantsnssv14269718, nssv14269722, nssv14269720, nssv14269719, nssv14269721
SamplesHG00512, NA19239, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230077
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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