A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17417620



Internal ID22475490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2076005..2076099hg38UCSC Ensembl
chr5:2076119..2076213hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5897992
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17417620
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010


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