A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367067



Internal ID22592736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120545482..120555336hg38UCSC Ensembl
chr12:120983285..120993139hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg389855
hg199855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931516
Supporting Variants
Samples
Known GenesRNF10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367067
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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