A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194689



Internal ID22344973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:96020819..96072340hg38UCSC Ensembl
OuterchrX:95275818..95327339hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg3851522
hg1951522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268352, nssv14268354, nssv14268353, nssv14268355, nssv14268357, nssv14268356, nssv14268351
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194689
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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