A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057808



Internal ID106396
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 StatusS
Merged Variantsnsv5511155
Supporting Variants
Samples
Known GenesTMEM194A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057808
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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