A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6390552



Internal ID21048105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:122780892..122950556hg38UCSC Ensembl
chr4:123702047..123871711hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38169665
hg19169665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18210236
Samples
Known GenesFGF2, NUDT6, SPATA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6390552
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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