A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17995633



Internal ID20562673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103240083..103240598hg38UCSC Ensembl
chr12:103633861..103634376hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38516
hg19516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465506
Supporting Variants
Samples
Known GenesC12orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17995633
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00037


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