A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918324



Internal ID22693545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56136160..56185979hg38UCSC Ensembl
chr8:57048719..57098538hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3849820
hg1949820
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440822
Samples
Known GenesPLAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918324
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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