A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269801



Internal ID22122234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:79291259..79324847hg38UCSC Ensembl
OuterchrX:78546756..78580344hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3833589
hg1933589
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208768
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269801
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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