A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268802



Internal ID22258890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:11694053..11738452hg38UCSC Ensembl
OuterchrX:11712173..11756571hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3844400
hg1944399
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191722
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268802
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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