A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088651



Internal ID21433470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75575622..75575622hg38UCSC Ensembl
chr12:75969402..75969402hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5663200
Supporting Variants
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088651
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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