A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13676614



Internal ID21198464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044601..105044601hg38UCSC Ensembl
chr12:105438379..105438379hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2790783
Supporting Variants
Samples
Known GenesALDH1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13676614
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.359375


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