A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14295977



Internal ID22202415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216766041..216766166hg38UCSC Ensembl
chr2:217630764..217630889hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526281
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14295977
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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