A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18082137



Internal ID20649177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177618245..177629861hg38UCSC Ensembl
chr2:178482973..178494589hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3811617
hg1911617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349067
Supporting Variants
Samples
Known GenesPDE11A, TTC30A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18082137
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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