A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17995639



Internal ID20562679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103367274..103367765hg38UCSC Ensembl
chr12:103761052..103761543hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457761
Supporting Variants
Samples
Known GenesC12orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17995639
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00069


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