A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205924



Internal ID22354544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:81202864..81211365hg38UCSC Ensembl
OuterchrX:80458363..80466864hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg388502
hg198502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268315
SamplesNA19238
Known GenesSH3BGRL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205924
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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