A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219468



Internal ID22364484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:70910688..70928857hg38UCSC Ensembl
OuterchrX:70130538..70148707hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381226
hg191226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269899, nssv14269898, nssv14269897
SamplesNA19238, NA19239, NA19240
Known GenesSLC7A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219468
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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