A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5648548



Internal ID21596853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73081669..73081669hg38UCSC Ensembl
chr17:71077808..71077808hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17098999
SamplesHG00732
Known GenesSLC39A11
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5648548
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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