A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544934



Internal ID319027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:152124626..152124626hg38UCSC Ensembl
chr6:152445761..152445761hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989016
Samples
Known GenesSYNE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544934
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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