A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270312



Internal ID22254797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:90419646..90470048hg38UCSC Ensembl
OuterchrX:89674645..89725047hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219844
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270312
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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