A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431656



Internal ID21393658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129004180..129005471hg38UCSC Ensembl
chr12:129488725..129490016hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381292
hg191292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15750333
SamplesMDQ045
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431656
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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