A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895272



Internal ID171026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206017646..206080915hg38UCSC Ensembl
chr1:206260417..206323722hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3863270
hg1963306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447980
Supporting Variants
Samples
Known GenesC1orf186, CTSE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895272
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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