A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17485923



Internal ID22543836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127346453..127352600hg38UCSC Ensembl
chr2:128104029..128110176hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg386148
hg196148
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830950
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17485923
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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