A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17469049



Internal ID22526939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106812710..106816209hg38UCSC Ensembl
chr12:107206488..107209987hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5858033
Supporting Variants
Samples
Known GenesRIC8B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17469049
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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