A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198731



Internal ID22348420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55645251..55685445hg38UCSC Ensembl
OuterchrX:55671684..55711878hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3840195
hg1940195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268896, nssv14268898, nssv14268897
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198731
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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