A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15748489



Internal ID21385039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71795380..71796793hg38UCSC Ensembl
chr12:72189160..72190573hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381414
hg191414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4431808
Supporting Variants
SamplesBTQ038
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15748489
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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