A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18089642



Internal ID20656682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72285342..72288075hg38UCSC Ensembl
chr2:72512471..72515204hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg382734
hg192734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6345631
Supporting Variants
Samples
Known GenesEXOC6B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18089642
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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