A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423612



Internal ID202628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:106851072..106856217hg38UCSC Ensembl
chrX:106094302..106099447hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg385146
hg195146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741846
Samples
Known GenesTBC1D8B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423612
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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