A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16269452



Internal ID20478670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112432923..112433010hg38UCSC Ensembl
chr2:113190500..113190587hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4732779
Supporting Variants
Samples
Known GenesRGPD5, RGPD8
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16269452
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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