A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199366



Internal ID22348961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:42459894..42478060hg38UCSC Ensembl
OuterchrX:42319146..42337312hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3818167
hg1918167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268854, nssv14268853, nssv14268852
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199366
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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