A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612744



Internal ID21561049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126185567..126185567hg38UCSC Ensembl
chr3:125904410..125904410hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17127008
SamplesNA19239
Known GenesALDH1L1-AS2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612744
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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