A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213503



Internal ID22360430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:53743639..53758711hg38UCSC Ensembl
OuterchrX:53770581..53785209hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg383236
hg193236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269617, nssv14269621, nssv14269615, nssv14269620, nssv14269622, nssv14269618, nssv14269616, nssv14269619, nssv14270704
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)nsv3213503
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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