A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206596



Internal ID22355114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130011099..130011582hg38UCSC Ensembl
chrX:129145075..129145558hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14353580
SamplesHG00512
Known GenesBCORL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206596
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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