A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14295309



Internal ID22202309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190561296..190563051hg38UCSC Ensembl
chr2:191426022..191427777hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg381756
hg191756
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203294
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14295309
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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