A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268938



Internal ID22188284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:115436949..115485417hg38UCSC Ensembl
OuterchrX:114671706..114719788hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3848469
hg1948083
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196716
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268938
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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