A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17127054



Internal ID21459321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81750602..81750673hg38UCSC Ensembl
chr3:81799753..81799824hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5568218
Supporting Variants
SamplesHG02818
Known GenesGBE1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17127054
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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