A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269467



Internal ID22225264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103901219..103913398hg38UCSC Ensembl
OuterchrX:103156140..103167993hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg3812180
hg1911854
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205085
Supporting Variants
SamplesHG00733
Known GenesMIR1256
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269467
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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