A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407812



Internal ID187142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177700922..177700973hg38UCSC Ensembl
chr1:177670057..177670108hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892621
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407812
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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