A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215864



Internal ID22362050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47084805..47097386hg38UCSC Ensembl
OuterchrX:46944204..46956785hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382550
hg192550
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269091, nssv14269088, nssv14269087, nssv14269089, nssv14269090, nssv14269086, nssv14269092
SamplesHG00512, NA19238, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRGN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215864
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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