A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17859581



Internal ID22043224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127180778..127180778hg38UCSC Ensembl
chr6:127501923..127501923hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6257160
Supporting Variants
Samples
Known GenesRSPO3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17859581
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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