A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270672



Internal ID22280587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:32897759..32983439hg38UCSC Ensembl
OuterchrX:32915876..33001556hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3885681
hg1985681
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205847
Supporting Variants
SamplesNA19239
Known GenesDMD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270672
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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