A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269632



Internal ID22146706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:146795643..146839485hg38UCSC Ensembl
OuterchrX:145877161..145921003hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg381562
hg191562
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212892
Supporting Variants
SamplesHG00514
Known GenesCXorf51A, CXorf51B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269632
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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