A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812480



Internal ID21257818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2531790..2531790hg38UCSC Ensembl
chr5:2531904..2531904hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13703080
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812480
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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