A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323689



Internal ID20856809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48708706..48742346hg38UCSC Ensembl
chr1:49174378..49208018hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3833641
hg1933641
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201415
Samples
Known GenesAGBL4, BEND5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323689
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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