A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216785



Internal ID22362664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55645251..55657749hg38UCSC Ensembl
OuterchrX:55671684..55684182hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg383171
hg193171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270725, nssv14270727, nssv14270723, nssv14270724, nssv14270722, nssv14270726, nssv14270721
SamplesHG00512, NA19238, 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)nsv3216785
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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