A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812688



Internal ID21258026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1984702..1984702hg38UCSC Ensembl
chr5:1984816..1984816hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13708400
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812688
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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