A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18006160



Internal ID20573200
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 StatusS
Merged Variantsnsv6465346
Supporting Variants
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18006160
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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