A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270592



Internal ID22198758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:50050895..50060469hg38UCSC Ensembl
OuterchrX:49815504..49825126hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg383520
hg193520
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216391
Supporting Variants
SamplesHG00732
Known GenesCLCN5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270592
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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