A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939603



Internal ID22714999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121482482..121488778hg38UCSC Ensembl
chr12:121920285..121926581hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386297
hg196297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362493
Samples
Known GenesKDM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939603
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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