A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269068



Internal ID22271989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:40937937..40950365hg38UCSC Ensembl
OuterchrX:40797190..40809618hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38943
hg19943
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226203
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269068
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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