A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741178



Internal ID164844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:85368102..85368197hg38UCSC Ensembl
chrX:84623107..84623202hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426812
Supporting Variants
Samples
Known GenesPOF1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741178
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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