A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270786



Internal ID22136540
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219731
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270786
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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