A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218518



Internal ID22363831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:128921259..128938077hg38UCSC Ensembl
OuterchrX:128055237..128072054hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38688
hg19688
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271142
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218518
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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