A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268851



Internal ID22257258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:38719940..38737000hg38UCSC Ensembl
OuterchrX:38579194..38596254hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3817061
hg1917061
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192623
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268851
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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