A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207886



Internal ID22356218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:30250525..30272689hg38UCSC Ensembl
OuterchrX:30268642..30290806hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3822165
hg1922165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270671
SamplesNA19239
Known GenesMAGEB1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207886
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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