A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218108



Internal ID22363564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:30784203..30815360hg38UCSC Ensembl
OuterchrX:30802320..30833477hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg382058
hg192058
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269037, nssv14269038, nssv14269040, nssv14269041, nssv14269039, nssv14269042
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218108
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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