A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191572



Internal ID22342261
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269800, nssv14269797, nssv14269799, nssv14269798
SamplesHG00512, HG00732, HG00733, HG00514
Known GenesMAGT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191572
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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