A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269621



Internal ID22258285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:53743639..53758711hg38UCSC Ensembl
OuterchrX:53770581..53785209hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg383236
hg193236
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213503
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269621
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer