A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970009



Internal ID22744944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47505003..47505003hg38UCSC Ensembl
chr20:46133747..46133747hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396899
Samples
Known GenesNCOA3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970009
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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