A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17076716



Internal ID21415772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044600..105044600hg38UCSC Ensembl
chr12:105438378..105438378hg19UCSC 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 Variantsnsv5655223
Supporting Variants
SamplesHG00731
Known GenesALDH1L2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17076716
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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