A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416555



Internal ID195776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14802350..14802401hg38UCSC Ensembl
chr12:14955284..14955335hg19UCSC 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 Variantsnssv17054253
Samples
Known GenesWBP11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416555
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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