A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268945



Internal ID22188287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:146554378..146584536hg38UCSC Ensembl
OuterchrX:145635896..145666054hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3830159
hg1930159
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198168
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268945
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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