A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268317



Internal ID22121816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:81813579..81851844hg38UCSC Ensembl
OuterchrX:81069078..81107343hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3838266
hg1938266
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205401
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268317
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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