A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407381



Internal ID22465251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177509931..177513011hg38UCSC Ensembl
chr2:178374659..178377739hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg383081
hg193081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5888107
Supporting Variants
Samples
Known GenesAGPS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407381
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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