A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13699895



Internal ID21221632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44876574..44876574hg38UCSC Ensembl
chr1:45342246..45342246hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2801963
Supporting Variants
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13699895
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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