A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218202



Internal ID22363620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153068539..153081487hg38UCSC Ensembl
OuterchrX:152236920..152347332hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270788
SamplesHG00513
Known GenesPNMA6A, PNMA6C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218202
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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