A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209087



Internal ID22357215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:92159106..92294730hg38UCSC Ensembl
OuterchrX:91414105..91549729hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38135625
hg19135625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270694
SamplesNA19239
Known GenesPCDH11X
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209087
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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