A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268882



Internal ID22258651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49953643..49969185hg38UCSC Ensembl
OuterchrX:49718254..49733798hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3815543
hg1915545
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199654
Supporting Variants
SamplesNA19238
Known GenesCLCN5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268882
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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