A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17138703



Internal ID21418372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41300510..41300510hg38UCSC Ensembl
chr22:41696514..41696514hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383501
hg193501
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5669241
Supporting Variants
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17138703
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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