A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191341



Internal ID22342060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:88484783..88498246hg38UCSC Ensembl
OuterchrX:87739784..87753247hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3813464
hg1913464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268935
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191341
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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