A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901017



Internal ID1479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20137512..20145077hg38UCSC Ensembl
chr1:20464005..20471570hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg387566
hg197566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420286
Supporting Variants
Samples
Known GenesPLA2G2F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901017
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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