A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054127



Internal ID103913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24506464..24507004hg38UCSC Ensembl
chr12:24659398..24659938hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38541
hg19541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508964
Supporting Variants
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054127
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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