A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2800488



Internal ID21245826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150744470..150744470hg38UCSC Ensembl
chr1:150716946..150716946hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13684841
Samples
Known GenesCTSS
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2800488
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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