A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17127008



Internal ID21502470
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 StatusS
Merged Variantsnsv5612744
Supporting Variants
SamplesNA19239
Known GenesALDH1L1-AS2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17127008
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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