A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18005809



Internal ID20572849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93283268..93300469hg38UCSC Ensembl
chr12:93677044..93694245hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3817202
hg1917202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6463443
Supporting Variants
Samples
Known GenesLOC643339
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18005809
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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