A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886772



Internal ID22661761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236437271..236623756hg38UCSC Ensembl
chr1:236600571..236787056hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38186486
hg19186486
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352822
Samples
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886772
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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