A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939014



Internal ID22714402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98552364..98554306hg38UCSC Ensembl
chr12:98946142..98948084hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381943
hg191943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368779
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939014
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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