A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2811076



Internal ID21256414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118864065..118864065hg38UCSC Ensembl
chr5:118199760..118199760hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg382453
hg192453
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13701099
Samples
Known GenesDTWD2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2811076
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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