A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003706



Internal ID20570746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81105901..81107563hg38UCSC Ensembl
chr12:81499680..81501342hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381663
hg191663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6463665
Supporting Variants
Samples
Known GenesACSS3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003706
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00011


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