A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496890



Internal ID273956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121920821..121921138hg38UCSC Ensembl
chr12:122358727..122359044hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685046
Samples
Known GenesWDR66
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496890
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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