A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269719



Internal ID22136208
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230077
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269719
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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