A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895075



Internal ID170897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211709130..211745086hg38UCSC Ensembl
chr1:211882472..211918428hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3835957
hg1935957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446758
Supporting Variants
Samples
Known GenesLPGAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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