A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903410



Internal ID22678577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4056147..4056235hg38UCSC Ensembl
chr6:4056381..4056469hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17444202
Samples
Known GenesPRPF4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903410
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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