A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6398817



Internal ID21056370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80725170..80964401hg38UCSC Ensembl
chr5:80020989..80260220hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38239232
hg19239232
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214218
Samples
Known GenesLOC102524628, MSH3, RASGRF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6398817
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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