A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216196



Internal ID22362273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:137311213..137329998hg38UCSC Ensembl
OuterchrX:136393372..136412157hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg381653
hg191653
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270167, nssv14270165, nssv14270163, nssv14270169, nssv14270161, nssv14270162, nssv14270168, nssv14270164, nssv14270166
SamplesHG00512, NA19238, NA19239, HG00731, 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)nsv3216196
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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