A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268308



Internal ID22273427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3837752..3940831hg38UCSC Ensembl
OuterchrX:3755793..3858872hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38103080
hg19103080
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200928
Supporting Variants
SamplesNA19239
Known GenesLOC389906
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268308
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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