A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511155



Internal ID287751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57077166..57080381hg38UCSC Ensembl
chr12:57470949..57474164hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg383216
hg193216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057808
Samples
Known GenesTMEM194A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511155
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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