A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902246



Internal ID2298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19698150..19699529hg38UCSC Ensembl
chr1:20024643..20026022hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381380
hg191380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419014
Supporting Variants
Samples
Known GenesTMCO4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902246
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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