A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268917



Internal ID22188264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:34515797..34539334hg38UCSC Ensembl
OuterchrX:34533914..34557451hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3823538
hg1923538
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192774
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268917
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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