A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427953



Internal ID206837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31534807..31534858hg38UCSC Ensembl
chr12:31687741..31687792hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057148
Samples
Known GenesDENND5B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427953
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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