A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418555



Internal ID197719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:50012101..50013249hg38UCSC Ensembl
chrX:49776709..49777857hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381149
hg191149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736914
Samples
Known GenesCLCN5, MIR660
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418555
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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