A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269716



Internal ID22204476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:417342..600208hg38UCSC Ensembl
OuterchrX:378077..560943hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg386664
hg196664
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228364
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269716
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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