A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6382819



Internal ID21040372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88490249..88536039hg38UCSC Ensembl
chr4:89411400..89457190hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3845791
hg1945791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214774
Samples
Known GenesHERC5, PIGY, PYURF
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6382819
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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