A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220857



Internal ID22365436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103106090..103110753hg38UCSC Ensembl
OuterchrX:102361018..102365681hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg382160
hg192160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270340, nssv14270342, nssv14270343, nssv14270341, nssv14270344
SamplesNA19238, HG00731, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220857
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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