A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270307



Internal ID22255720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:90262703..90277618hg38UCSC Ensembl
OuterchrX:89517702..89532617hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg388627
hg198627
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219914
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270307
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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