A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268832



Internal ID22286305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:13874004..13893379hg38UCSC Ensembl
OuterchrX:13892123..13911498hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3819376
hg1919376
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190938
Supporting Variants
SamplesNA19240
Known GenesGPM6B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268832
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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