A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191160



Internal ID22341906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:140407477..140423996hg38UCSC Ensembl
OuterchrX:139489642..139506161hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3816520
hg1916520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269255, nssv14269254
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191160
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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