A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694869



Internal ID118535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53954837..53955667hg38UCSC Ensembl
chr14:54421555..54422385hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38831
hg19831
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557576
Supporting Variants
Samples
Known GenesBMP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694869
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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