A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939848



Internal ID22715247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98738315..98738387hg38UCSC Ensembl
chr12:99132093..99132165hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360305
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939848
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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