A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647131



Internal ID21595436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73269132..73269132hg38UCSC Ensembl
chr17:71265271..71265271hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17090227
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647131
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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