A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17360390



Internal ID22586059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98974576..98974576hg38UCSC Ensembl
chr12:99368354..99368354hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5970155
Supporting Variants
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17360390
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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