A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269283



Internal ID22146658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5124220..5198347hg38UCSC Ensembl
OuterchrX:5042261..5116388hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg3874128
hg1974128
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199184
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269283
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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