A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742018



Internal ID165684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:112424152..113043624hg38UCSC Ensembl
chrX:111667380..112286852hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38619473
hg19619473
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139081
Supporting Variants
Samples
Known GenesAMOT, LHFPL1, MIR4329, ZCCHC16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742018
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000416406


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