A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895460



Internal ID171144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200107812..200107812hg38UCSC Ensembl
chr1:200076940..200076940hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549573
Supporting Variants
Samples
Known GenesNR5A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895460
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006869


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