A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6461780



Internal ID21119333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99980901..99988500hg38UCSC Ensembl
chr12:100374679..100382278hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387600
hg197600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188089
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6461780
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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