A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268814



Internal ID22310141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:11929187..11943497hg38UCSC Ensembl
OuterchrX:11947306..11961616hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3814311
hg1914311
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206024
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268814
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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