A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367240



Internal ID22592909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106305227..106305295hg38UCSC Ensembl
chr12:106699005..106699073hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929119
Supporting Variants
Samples
Known GenesTCP11L2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367240
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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