A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978983



Internal ID53364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10912598..10912649hg38UCSC Ensembl
chr6:10912831..10912882hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554836
Supporting Variants
Samples
Known GenesSYCP2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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