A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18088893



Internal ID20655933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69643301..69643900hg38UCSC Ensembl
chr2:69870433..69871032hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6343561
Supporting Variants
Samples
Known GenesAAK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18088893
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.01675


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