A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412626



Internal ID191928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37393331..37393382hg38UCSC Ensembl
chr6:37361107..37361158hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982147
Samples
Known GenesRNF8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412626
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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