A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213813



Internal ID22360637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5015448..5052802hg38UCSC Ensembl
OuterchrX:4933489..4970843hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg389476
hg199476
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269549, nssv14269550, nssv14269547, nssv14269553, nssv14269552, nssv14269548, nssv14269551
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213813
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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