A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506700



Internal ID283440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10047905..10048008hg38UCSC Ensembl
chr12:10200504..10200607hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052872
Samples
Known GenesCLEC9A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506700
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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