A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5902709



Internal ID22677870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230724082..230728073hg38UCSC Ensembl
chr2:231588797..231592788hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383992
hg193992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405685
Samples
Known GenesCAB39
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5902709
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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