A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218967



Internal ID22364137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:67757891..67816981hg38UCSC Ensembl
OuterchrX:66977733..67036823hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg382241
hg192241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270528, nssv14270532, nssv14270527, nssv14270530, nssv14270531, nssv14270529
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218967
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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