A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6409512



Internal ID21067065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54206978..54565421hg38UCSC Ensembl
chr5:53502808..53861251hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38358444
hg19358444
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214033
Samples
Known GenesARL15, HSPB3, SNX18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6409512
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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