A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981845



Internal ID55249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52188877..52188968hg38UCSC Ensembl
chr6:52053675..52053766hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140643
Supporting Variants
Samples
Known GenesIL17A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981845
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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