A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17466922



Internal ID22524813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43999448..44008544hg38UCSC Ensembl
chr12:44393251..44402347hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg389097
hg199097
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5850976
Supporting Variants
Samples
Known GenesTMEM117
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17466922
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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