A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210116



Internal ID22358084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:126799289..126827718hg38UCSC Ensembl
OuterchrX:125933272..125961701hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3828430
hg1928430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269245
SamplesNA19239
Known GenesCXorf64
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210116
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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