A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706282



Internal ID129948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27644137..27645628hg38UCSC Ensembl
chr16:27655458..27656949hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381492
hg191492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526315
Supporting Variants
Samples
Known GenesKIAA0556
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706282
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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