A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970871



Internal ID47915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139143590..139158205hg38UCSC Ensembl
chr6:139464727..139479342hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3814616
hg1914616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460181
Supporting Variants
Samples
Known GenesHECA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970871
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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