A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220460



Internal ID22365149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154344204..154391905hg38UCSC Ensembl
OuterchrX:153572572..153620247hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10361n152
Supporting Variantsnssv14270790
SamplesHG00513
Known GenesEMD, FLNA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220460
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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