A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17351744



Internal ID22577413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43999721..44008573hg38UCSC Ensembl
chr12:44393524..44402376hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg388853
hg198853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5945357
Supporting Variants
Samples
Known GenesTMEM117
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17351744
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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