A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269113



Internal ID22285717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:50053230..50061678hg38UCSC Ensembl
OuterchrX:49817839..49826335hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg382184
hg192184
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214192
Supporting Variants
SamplesNA19240
Known GenesCLCN5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269113
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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