A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6394478



Internal ID21052031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6698201..6797000hg38UCSC Ensembl
chr5:6698314..6797113hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3898800
hg1998800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214851
Samples
Known GenesLOC100505625, PAPD7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6394478
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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