A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194110



Internal ID22344474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:130527190..130536387hg38UCSC Ensembl
OuterchrX:129661164..129670361hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg389198
hg199198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269246, nssv14269247
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194110
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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