A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17604087



Internal ID21796134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24289440..24289754hg38UCSC Ensembl
chr12:24442374..24442688hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6035906
Supporting Variants
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17604087
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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