A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427935



Internal ID22485805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57013954..57017730hg38UCSC Ensembl
chr5:56309781..56313557hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383777
hg193777
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5905963
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427935
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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