A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17352847



Internal ID22578516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:199742370..199742370hg38UCSC Ensembl
chr1:199711498..199711498hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950018
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17352847
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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