A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202716



Internal ID22351838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:143320132..143419531hg38UCSC Ensembl
OuterchrX:142407927..142507327hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3899400
hg1999401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10331n152
Supporting Variantsnssv14268455, nssv14268454
SamplesNA19238, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202716
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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