A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969351



Internal ID46888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127139539..127139590hg38UCSC Ensembl
chr6:127460684..127460735hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468380
Supporting Variants
Samples
Known GenesRSPO3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969351
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001561


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