A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270465



Internal ID22189009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:135155239..135217300hg38UCSC Ensembl
OuterchrX:134289164..134351231hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225751
Supporting Variants
SamplesHG00731
Known GenesCXorf48
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270465
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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