A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717283



Internal ID140949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35000727..35000789hg38UCSC Ensembl
chr18:32580691..32580753hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528943
Supporting Variants
Samples
Known GenesMAPRE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717283
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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