A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270120



Internal ID22188834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:123519710..123543739hg38UCSC Ensembl
OuterchrX:122653561..122677590hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381782
hg191782
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221601
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270120
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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