A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196459



Internal ID22346462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:21079237..21118066hg38UCSC Ensembl
OuterchrX:21097355..21136184hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg3838830
hg1938830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268915
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196459
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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