A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929119



Internal ID22704368
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 StatusM
Merged Variants
Supporting Variantsnssv17367240
Samples
Known GenesTCP11L2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929119
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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