A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211976



Internal ID22359359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49017176..49026788hg38UCSC Ensembl
OuterchrX:48873578..48884298hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381274
hg191274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269105, nssv14269104, nssv14269101, nssv14269103, nssv14269102
SamplesNA19238, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211976
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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