A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970013



Internal ID22744948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6793085..6793085hg38UCSC Ensembl
chr17:6696404..6696404hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376498
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970013
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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