A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906217



Internal ID4940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68176302..68176370hg38UCSC Ensembl
chr1:68641985..68642053hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423157
Supporting Variants
Samples
Known GenesGNG12-AS1, WLS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906217
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.044333


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