A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687502



Internal ID111168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46718993..46719064hg38UCSC Ensembl
chr13:47293128..47293199hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513612
Supporting Variants
Samples
Known GenesLRCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687502
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.529789


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