A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219731



Internal ID22363704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153026292..153031244hg38UCSC Ensembl
OuterchrX:152194831..152199589hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38840
hg19840
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270787, nssv14270786
SamplesHG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219731
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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