A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217908



Internal ID22363427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:52521151..52552764hg38UCSC Ensembl
OuterchrX:52550160..52581776hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3813202
hg1913202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270796
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217908
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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