A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056988



Internal ID105828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29643383..29643752hg38UCSC Ensembl
chr12:29796316..29796685hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507240
Supporting Variants
Samples
Known GenesTMTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056988
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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