A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17358327



Internal ID22583996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92071727..92072044hg38UCSC Ensembl
chr12:92465503..92465820hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943698
Supporting Variants
Samples
Known GenesC12orf79
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17358327
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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