A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229716



Internal ID22371473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:116010268..116044138hg38UCSC Ensembl
OuterchrX:115126601..115175391hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3814820
hg1914820
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269610, nssv14269614, nssv14269612, nssv14270106, nssv14269611, nssv14270107, nssv14270108, nssv14269613
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229716
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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