A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430705



Internal ID209502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:70113204..70113287hg38UCSC Ensembl
chrX:69333054..69333137hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740594
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430705
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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