A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741214



Internal ID164880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:86265428..86265463hg38UCSC Ensembl
chrX:85520431..85520466hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553151
Supporting Variants
Samples
Known GenesDACH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741214
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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