A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17430767



Internal ID22488637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:92546941..92555252hg38UCSC Ensembl
chr6:93256659..93264970hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg388312
hg198312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893980
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17430767
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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