A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269222



Internal ID22222388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1315711..1437299hg38UCSC Ensembl
OuterchrX:1434604..1556192hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38121589
hg19121589
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194796
Supporting Variants
SamplesHG00733
Known GenesASMTL, ASMTL-AS1, IL3RA, SLC25A6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269222
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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