A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392764



Internal ID22450634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85397698..85397698hg38UCSC Ensembl
chr2:85624821..85624821hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5960788
Supporting Variants
Samples
Known GenesCAPG
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392764
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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