A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17530591



Internal ID21854947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3640861..3640861hg38UCSC Ensembl
chr2:3688451..3688451hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6050692
Supporting Variants
Samples
Known GenesCOLEC11
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17530591
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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