A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402293



Internal ID22460163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28606607..28613176hg38UCSC Ensembl
chr2:28829474..28836043hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg386570
hg196570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5868634
Supporting Variants
Samples
Known GenesPLB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402293
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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