A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897587



Internal ID172552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239706765..239706839hg38UCSC Ensembl
chr1:239870065..239870139hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453504
Supporting Variants
Samples
Known GenesCHRM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897587
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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