A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927770



Internal ID22703001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124906059..124907464hg38UCSC Ensembl
chr12:125390605..125392010hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381406
hg191406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366282
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927770
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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