A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951207



Internal ID22726581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202291968..202291968hg38UCSC Ensembl
chr2:203156691..203156691hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409360
Samples
Known GenesNOP58
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951207
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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