A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18042224



Internal ID20609264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51071057..51071665hg38UCSC Ensembl
chr18:48597427..48598035hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6522206
Supporting Variants
Samples
Known GenesSMAD4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18042224
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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