A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16259490



Internal ID20468708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24365679..24365679hg38UCSC Ensembl
chr12:24518613..24518613hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4759223
Supporting Variants
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16259490
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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