A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17445110



Internal ID22502980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:48600307..48610041hg38UCSC Ensembl
chr6:48568043..48577777hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg389735
hg199735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900489
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17445110
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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