A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054097



Internal ID103894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24223073..24224491hg38UCSC Ensembl
chr12:24376007..24377425hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381419
hg191419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500086
Supporting Variants
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054097
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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