A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16283731



Internal ID20492949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117359991..117359991hg38UCSC Ensembl
chr12:117797796..117797796hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4757671
Supporting Variants
Samples
Known GenesNOS1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16283731
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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