A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210124



Internal ID22358091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3837752..3962822hg38UCSC Ensembl
OuterchrX:3755793..3880863hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38125071
hg19125071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10006n152
Supporting Variantsnssv14268311, nssv14268310, nssv14268309
SamplesNA19238, HG00732, HG00514
Known GenesLOC389906
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210124
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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