A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214974



Internal ID22361459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:112297850..112312651hg38UCSC Ensembl
OuterchrX:111541078..111555879hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269583, nssv14271158, nssv14269587, nssv14269584, nssv14269588, nssv14269586, nssv14269589, nssv14269585, nssv14271157
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesZCCHC16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214974
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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