A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428178



Internal ID207057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:102752152..102752662hg38UCSC Ensembl
chrX:102007080..102007590hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741761
Samples
Known GenesBHLHB9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428178
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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