A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503806



Internal ID280620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125297728..125316500hg38UCSC Ensembl
chr12:125782274..125801046hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3818773
hg1918773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690908
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503806
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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