A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893288



Internal ID169683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180272090..180272127hg38UCSC Ensembl
chr1:180241225..180241262hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550926
Supporting Variants
Samples
Known GenesLHX4, LOC100527964
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893288
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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