A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207468



Internal ID22355854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:41414582..41448570hg38UCSC Ensembl
OuterchrX:41273835..41307823hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3833989
hg1933989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269857
SamplesHG00514
Known GenesNYX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207468
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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