A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499722



Internal ID276683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103446676..103454657hg38UCSC Ensembl
chr12:103840454..103848435hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg387982
hg197982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv110n206
Supporting Variantsnssv17690467
Samples
Known GenesC12orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499722
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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