A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194796



Internal ID22345065
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269224, nssv14269222, nssv14269219, nssv14269220, nssv14269223, nssv14269221
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesASMTL, ASMTL-AS1, IL3RA, SLC25A6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194796
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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