A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429188



Internal ID208040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:112118542..112124542hg38UCSC Ensembl
chrX:111361770..111367770hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742005
Samples
Known GenesZCCHC16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429188
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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