A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433176



Internal ID211901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15646162..15646213hg38UCSC Ensembl
chr12:15799096..15799147hg19UCSC Ensembl
Cytoband12p12.3
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 Variantsnssv17054328
Samples
Known GenesEPS8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433176
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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