A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17485024



Internal ID22542935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112548810..112558510hg38UCSC Ensembl
chr2:113306387..113316087hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg389701
hg199701
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830591
Supporting Variants
Samples
Known GenesPOLR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17485024
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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