A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2816866



Internal ID21262204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109311560..109311560hg38UCSC Ensembl
chr8:110323789..110323789hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13708624
Samples
Known GenesNUDCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2816866
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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