A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966285



Internal ID22741220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168569025..168569025hg38UCSC Ensembl
chr5:167996030..167996030hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428552
Samples
Known GenesPANK3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966285
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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