A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001148



Internal ID20568188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42237401..42238100hg38UCSC Ensembl
chr12:42631203..42631902hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459758
Supporting Variants
Samples
Known GenesYAF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001148
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.08804


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