A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899388



Internal ID364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20687947..20690187hg38UCSC Ensembl
chr1:21014440..21016680hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg382241
hg192241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432355
Supporting Variants
Samples
Known GenesKIF17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16899388
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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