A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111740



Internal ID21405762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232897793..232897793hg38UCSC Ensembl
chr2:233762503..233762503hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5622058
Supporting Variants
SamplesHG00512
Known GenesNGEF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111740
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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