A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17353579



Internal ID22579248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220228803..220228803hg38UCSC Ensembl
chr1:220402145..220402145hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5951433
Supporting Variants
Samples
Known GenesRAB3GAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17353579
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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