A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15745763



Internal ID21385565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130882275..130882844hg38UCSC Ensembl
chr12:131366820..131367389hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4431673
Supporting Variants
SamplesBTQ055
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15745763
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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