A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194045



Internal ID22344415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:82720687..82746312hg38UCSC Ensembl
OuterchrX:81976136..82001320hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3825626
hg1925185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269466
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194045
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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