A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225575



Internal ID22368664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:67798771..67816981hg38UCSC Ensembl
OuterchrX:67018613..67036823hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38727
hg19727
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270814, nssv14270815
SamplesHG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225575
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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