A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396296



Internal ID22454166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203462843..203462918hg38UCSC Ensembl
chr2:204327566..204327641hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894621
Supporting Variants
Samples
Known GenesRAPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396296
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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