A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194817



Internal ID22345084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:88837278..88910220hg38UCSC Ensembl
OuterchrX:88092279..88165221hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3872943
hg1972943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268964
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194817
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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