A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216651



Internal ID22362580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:101132426..101142978hg38UCSC Ensembl
OuterchrX:100387415..100397967hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38712
hg19712
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270336, nssv14270339, nssv14270338, nssv14270337, nssv14270335, nssv14270334
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesCENPI
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216651
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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