A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219974



Internal ID22364820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47967835..47973467hg38UCSC Ensembl
OuterchrX:47827234..47832866hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270811, nssv14270812
SamplesHG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219974
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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