A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227488



Internal ID22369968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:155243712..155275494hg38UCSC Ensembl
OuterchrX:154471993..154504783hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381104
hg191104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270757, nssv14270755, nssv14270756, nssv14270758, nssv14270759
SamplesNA19239, HG00731, HG00732, HG00733, HG00514
Known GenesRAB39B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227488
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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