A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547347



Internal ID321208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9603210..9603210hg38UCSC Ensembl
chr18:9603208..9603208hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg383074
hg193074
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715325
Samples
Known GenesPPP4R1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547347
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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