A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550147



Internal ID323739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98800691..98800726hg38UCSC Ensembl
chr12:99194469..99194504hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690233
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550147
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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