A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270548



Internal ID22122508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:108032661..108044215hg38UCSC Ensembl
OuterchrX:107275891..107287445hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221290
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270548
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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