A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504113



Internal ID280922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98878014..98879697hg38UCSC Ensembl
chr12:99271792..99273475hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381684
hg191684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690236
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504113
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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