A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646752



Internal ID21595057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79732136..79732136hg38UCSC Ensembl
chr17:77705934..77705934hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079738
SamplesHG00513
Known GenesENPP7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646752
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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