A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2804824



Internal ID21250162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45208294..45208294hg38UCSC Ensembl
chr22:45604175..45604175hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13683970
Samples
Known GenesKIAA0930
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2804824
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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