A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17404101



Internal ID22461971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36591010..36594411hg38UCSC Ensembl
chr2:36818153..36821554hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg383402
hg193402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875219
Supporting Variants
Samples
Known GenesFEZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17404101
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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