A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196242



Internal ID22346285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124676310..124676864hg38UCSC Ensembl
chrX:123810160..123810714hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38555
hg19555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14353450
SamplesHG00731
Known GenesTENM1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196242
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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