A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17413170



Internal ID22471040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125264050..125266682hg38UCSC Ensembl
chr6:125585196..125587828hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg382633
hg192633
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5905947
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17413170
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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