A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269836



Internal ID22136232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1367953..1415789hg38UCSC Ensembl
OuterchrX:1486846..1534682hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3847837
hg1947837
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205865
Supporting Variants
SamplesHG00513
Known GenesASMTL, ASMTL-AS1, IL3RA, SLC25A6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269836
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