A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2804184



Internal ID21249522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28730265..28730265hg38UCSC Ensembl
chr22:29126253..29126253hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13683662, nssv13680271
Samples
Known GenesCHEK2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2804184
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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