A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976087



Internal ID51463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139197190..139198995hg38UCSC Ensembl
chr5:138532879..138534684hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381806
hg191806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455743
Supporting Variants
Samples
Known GenesSIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976087
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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