A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18092226



Internal ID20659266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84689356..84690035hg38UCSC Ensembl
chr2:84916480..84917159hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6353589
Supporting Variants
Samples
Known GenesDNAH6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18092226
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00037


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