A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922994



Internal ID16087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206225736..206225736hg38UCSC Ensembl
chr2:207090460..207090460hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384609
hg194609
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545400
Supporting Variants
Samples
Known GenesGPR1-AS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922994
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.738705


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