A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502512



Internal ID279374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10076000..10081300hg38UCSC Ensembl
chr12:10228599..10233899hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg385301
hg195301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052873
Samples
Known GenesCLEC1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502512
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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