A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405756



Internal ID185098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23370914..23370965hg38UCSC Ensembl
chr1:23697407..23697458hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900140
Samples
Known GenesC1orf213
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405756
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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