A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268834



Internal ID22135946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:34403818..34462967hg38UCSC Ensembl
OuterchrX:34421935..34481084hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3859150
hg1959150
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204031
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268834
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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