A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356372



Internal ID22582041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64276735..64276869hg38UCSC Ensembl
chr12:64670515..64670649hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5945725
Supporting Variants
Samples
Known GenesC12orf56
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356372
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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