A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426952



Internal ID205867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154402438..154402634hg38UCSC Ensembl
chrX:153630779..153630975hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17738114
Samples
Known GenesDNASE1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426952
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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