A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17556699



Internal ID21881054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196246928..196247006hg38UCSC Ensembl
chr3:195973799..195973877hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5992992
Supporting Variants
Samples
Known GenesPCYT1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17556699
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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