A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999741



Internal ID20566781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23981401..23982100hg38UCSC Ensembl
chr12:24134335..24135034hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6474078
Supporting Variants
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999741
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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