A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431790



Internal ID21393792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56521524..56522399hg38UCSC Ensembl
chr12:56915308..56916183hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15748720
SamplesMDQ045
Known GenesRBMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431790
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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