A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18005296



Internal ID20572336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88056670..88057272hg38UCSC Ensembl
chr12:88450447..88451049hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38603
hg19603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475097
Supporting Variants
Samples
Known GenesCEP290
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18005296
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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