A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269239



Internal ID22204372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:105347538..105469302hg38UCSC Ensembl
OuterchrX:104592218..104713294hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38121765
hg19121077
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191240
Supporting Variants
SamplesHG00732
Known GenesIL1RAPL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269239
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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