A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2817544



Internal ID21262882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112369997..112369997hg38UCSC Ensembl
chr8:113382226..113382226hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13705949
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2817544
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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