A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2818004



Internal ID21263342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143042166..143042166hg38UCSC Ensembl
chr8:144123583..144123583hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13702049
Samples
Known GenesC8orf31
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2818004
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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