A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970854



Internal ID47905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138878594..138878711hg38UCSC Ensembl
chr6:139199731..139199848hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468046
Supporting Variants
Samples
Known GenesECT2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970854
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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