A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407834



Internal ID187164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52270581..52270632hg38UCSC Ensembl
chr6:52135379..52135430hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981849
Samples
Known GenesMCM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407834
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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