A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268919



Internal ID22188266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:37876629..37888537hg38UCSC Ensembl
OuterchrX:37735882..37747790hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3811909
hg1911909
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207752
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268919
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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