A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269689



Internal ID22274799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153364061..153398095hg38UCSC Ensembl
OuterchrX:152629519..152663553hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383011
hg193011
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216744
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269689
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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