A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269255



Internal ID22328933
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191160
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269255
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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