A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429121



Internal ID207976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39045401..39045401hg38UCSC Ensembl
chr13:39619538..39619538hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687026
Samples
Known GenesNHLRC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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