A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269823



Internal ID22122266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:123834147..123857548hg38UCSC Ensembl
OuterchrX:122967997..122991398hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3823402
hg1923402
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198453
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269823
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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