A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6384461



Internal ID21042014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56071701..56537000hg38UCSC Ensembl
chr4:56937867..57403166hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38465300
hg19465300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18211950
Samples
Known GenesAASDH, ARL9, KIAA1211, PAICS, PPAT, SRP72, THEGL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6384461
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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