A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202374



Internal ID22351550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:136061026..136076504hg38UCSC Ensembl
OuterchrX:135143185..135158663hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3815479
hg1915479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269253
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202374
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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