A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18075479



Internal ID20642519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101084742..101087948hg38UCSC Ensembl
chr2:101701204..101704410hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383207
hg193207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344628
Supporting Variants
Samples
Known GenesTBC1D8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18075479
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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