A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830899



Internal ID22605834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112571685..112589089hg38UCSC Ensembl
chr2:113329262..113346666hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3817405
hg1917405
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17485027
Samples
Known GenesCHCHD5, POLR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830899
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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