A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17735563



Internal ID159229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70866956..70867007hg38UCSC Ensembl
chr6:71576659..71576710hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557058
Supporting Variants
Samples
Known GenesB3GAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17735563
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002659


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