A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17104512



Internal ID21474484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2761705..2761705hg38UCSC Ensembl
chr19:2761703..2761703hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5644954
Supporting Variants
SamplesHG03371
Known GenesSGTA
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17104512
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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