A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269814



Internal ID22118142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:89694071..89798154hg38UCSC Ensembl
OuterchrX:88949070..89053153hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38104084
hg19104084
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197716
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269814
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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