A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562224



Internal ID22430984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224974791..224974791hg38UCSC Ensembl
chr2:225839508..225839508hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297482, nssv14297483, nssv14297484
SamplesHG00731, HG00732, HG00733
Known GenesDOCK10
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562224
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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