A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17100155



Internal ID21458308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12362724..12362724hg38UCSC Ensembl
chr18:12362723..12362723hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5653696
Supporting Variants
SamplesHG02587
Known GenesAFG3L2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17100155
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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