A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270677



Internal ID22276766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:64327825..64355424hg38UCSC Ensembl
OuterchrX:63547705..63575304hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg3827600
hg1927600
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193287
Supporting Variants
SamplesNA19239
Known GenesMTMR8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270677
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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