A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269799



Internal ID22204488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:77865526..77880127hg38UCSC Ensembl
OuterchrX:77121023..77135624hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3814602
hg1914602
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191572
Supporting Variants
SamplesHG00732
Known GenesMAGT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269799
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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