A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214631



Internal ID22361227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:112703617..112720528hg38UCSC Ensembl
OuterchrX:111946845..111963756hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38984
hg19984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270559, nssv14270561, nssv14270560
SamplesHG00512, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214631
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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