A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6410875



Internal ID21068428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140690101..140733400hg38UCSC Ensembl
chr5:140069686..140112985hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3843300
hg1943300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215087
Samples
Known GenesHARS, HARS2, VTRNA1-1, VTRNA1-2, VTRNA1-3, ZMAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6410875
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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