A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976504



Internal ID22751439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9603210..9603210hg38UCSC Ensembl
chr18:9603208..9603208hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409226
Samples
Known GenesPPP4R1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976504
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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