A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217208



Internal ID22362942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:9388660..9421447hg38UCSC Ensembl
OuterchrX:9356700..9389487hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3813207
hg1913207
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10026n152
Supporting Variantsnssv14268989, nssv14268991, nssv14268988, nssv14268990
SamplesNA19238, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217208
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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