A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557559



Internal ID330655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49132436..49132487hg38UCSC Ensembl
chr12:49526219..49526270hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38786
hg19786
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058238
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557559
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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