A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925713



Internal ID17892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227980232..227980232hg38UCSC Ensembl
chr2:228844948..228844948hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553902
Supporting Variants
Samples
Known GenesSPHKAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925713
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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