A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214192



Internal ID22360915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:50053230..50061678hg38UCSC Ensembl
OuterchrX:49817839..49826335hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg382184
hg192184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10121n152
Supporting Variantsnssv14269109, nssv14269111, nssv14269112, nssv14269113, nssv14269107, nssv14269108, nssv14269110
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00514
Known GenesCLCN5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214192
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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