A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17469447



Internal ID22527337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106320425..106323424hg38UCSC Ensembl
chr12:106714203..106717202hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5860712
Supporting Variants
Samples
Known GenesTCP11L2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17469447
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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