A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543671



Internal ID317903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42002262..42002298hg38UCSC Ensembl
chr4:42004279..42004315hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949600
Samples
Known GenesSLC30A9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543671
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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