A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17484848



Internal ID22542757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39035623..39037722hg38UCSC Ensembl
chr2:39262764..39264863hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832900
Supporting Variants
Samples
Known GenesSOS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17484848
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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