A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6371716



Internal ID21029269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8304727..8567777hg38UCSC Ensembl
chr4:8306454..8569504hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38263051
hg19263051
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214720
Samples
Known GenesACOX3, HTRA3, TRMT44
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6371716
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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