A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17130172



Internal ID21415959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38110050..38110050hg38UCSC Ensembl
chr22:38506057..38506057hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381528
hg191528
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5668851
Supporting Variants
SamplesHG00731
Known GenesBAIAP2L2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17130172
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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