A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227345



Internal ID22369869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:41424261..41533616hg38UCSC Ensembl
OuterchrX:41283514..41392869hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg382451
hg192451
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269072, nssv14269073, nssv14269077, nssv14269075, nssv14269074, nssv14269070, nssv14269069, nssv14269071, nssv14269076
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCASK, NYX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227345
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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