A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327740



Internal ID20860882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236136407..236268376hg38UCSC Ensembl
chr1:236299707..236431676hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38131970
hg19131970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202466
Samples
Known GenesERO1LB, GPR137B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327740
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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