A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556193



Internal ID329334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11467018..12059240hg38UCSC Ensembl
chr12:11619952..12212174hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38592223
hg19592223
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055865
Samples
Known GenesETV6, LOC338817, RNU6-19P
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556193
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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