A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201612



Internal ID22350886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:85165065..85233444hg38UCSC Ensembl
OuterchrX:84420071..84488450hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3868380
hg1968380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268323
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201612
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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