A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420503



Internal ID199605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:118815000..118858000hg38UCSC Ensembl
chrX:117948963..117991963hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3843001
hg1943001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737288
Samples
Known GenesZCCHC12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420503
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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