A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500108



Internal ID277053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24216983..24222942hg38UCSC Ensembl
chr12:24369917..24375876hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg385960
hg195960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054092
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500108
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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