A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205085



Internal ID22353836
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269467
SamplesHG00733
Known GenesMIR1256
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205085
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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