A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227523



Internal ID22369989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:123769166..123790688hg38UCSC Ensembl
OuterchrX:122903016..122924538hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg382822
hg192822
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270464
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227523
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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