A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494766



Internal ID271899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67603540..67607849hg38UCSC Ensembl
chr12:67997320..68001629hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg384310
hg194310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688785
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494766
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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