A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268312



Internal ID22224961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5124220..5142537hg38UCSC Ensembl
OuterchrX:5042261..5060578hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg3818318
hg1918318
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194362
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268312
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