A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6384341



Internal ID21041894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31862148..31862770hg38UCSC Ensembl
chr5:31862254..31862876hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18216181
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6384341
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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