A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227445



Internal ID22369940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:77168825..77198912hg38UCSC Ensembl
OuterchrX:76389290..76419375hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg383453
hg193453
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269902, nssv14269901, nssv14269900, nssv14269903
SamplesNA19238, HG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227445
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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