A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268865



Internal ID22253535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:46930875..46935358hg38UCSC Ensembl
OuterchrX:46790310..46794793hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg384484
hg194484
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209007
Supporting Variants
SamplesNA19238
Known GenesJADE3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268865
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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